ClinVar Genomic variation as it relates to human health
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
Variation ID: 585073 Accession: VCV000585073.37
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 9q21.12 9: 70598463 (GRCh38) [ NCBI UCSC ] 9: 73213379 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 14, 2018 Apr 15, 2024 May 3, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001366145.2(TRPM3):c.3004G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
missense NM_001366145.2:c.3004G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001353074.1:p.Val1002Met missense NM_001007471.4:c.2968G>A NP_001007472.2:p.Val990Met missense NM_001366141.2:c.2974G>A NP_001353070.1:p.Val992Met missense NM_001366142.2:c.3010G>A NP_001353071.1:p.Val1004Met missense NM_001366143.2:c.2974G>A NP_001353072.1:p.Val992Met missense NM_001366146.2:c.3004G>A NP_001353075.1:p.Val1002Met missense NM_001366147.2:c.3079G>A NP_001353076.1:p.Val1027Met missense NM_001366148.2:c.3049G>A NP_001353077.1:p.Val1017Met missense NM_001366149.2:c.2974G>A NP_001353078.1:p.Val992Met missense NM_001366150.2:c.2938G>A NP_001353079.1:p.Val980Met missense NM_001366151.2:c.2968G>A NP_001353080.1:p.Val990Met missense NM_001366152.2:c.3079G>A NP_001353081.1:p.Val1027Met missense NM_001366154.2:c.2545G>A NP_001353083.1:p.Val849Met missense NM_020952.5:c.2509G>A NM_020952.6:c.2509G>A NP_066003.3:p.Val837Met missense NM_024971.7:c.2545G>A NP_079247.5:p.Val849Met missense NM_206944.5:c.2479G>A NP_996827.3:p.Val827Met missense NM_206945.5:c.2515G>A NP_996828.3:p.Val839Met missense NM_206946.5:c.2584G>A NP_996829.3:p.Val862Met missense NM_206947.5:c.2554G>A NP_996830.3:p.Val852Met missense NC_000009.12:g.70598463C>T NC_000009.11:g.73213379C>T NG_047197.1:g.853462G>A - Protein change
- V837M, V990M, V1002M, V1017M, V827M, V1027M, V849M, V1004M, V862M, V980M, V839M, V852M, V992M
- Other names
- -
- Canonical SPDI
- NC_000009.12:70598462:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- variation affecting protein Variation Ontology [VariO:0002]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
TRPM3 | - | - |
GRCh38 GRCh37 |
110 | 228 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (3) |
criteria provided, single submitter
|
May 1, 2021 | RCV000709842.23 | |
Pathogenic (1) |
no assertion criteria provided
|
Mar 26, 2019 | RCV000766226.3 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 30, 2020 | RCV001199967.4 | |
Pathogenic (1) |
no assertion criteria provided
|
Nov 16, 2020 | RCV001267689.4 | |
Pathogenic (2) |
criteria provided, single submitter
|
Jan 3, 2022 | RCV001809776.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 4, 2022 | RCV002287440.3 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 18, 2022 | RCV002289990.3 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
May 3, 2023 | RCV003148840.6 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Likely pathogenic
(Jul 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux
Accession: SCV001161767.1
First in ClinVar: Jul 16, 2020 Last updated: Jul 16, 2020 |
Comment:
This missense has been reported in 7 individuals as de novo causing variation (deleterious predicted effects + absent from control database) for a new autosomal … (more)
This missense has been reported in 7 individuals as de novo causing variation (deleterious predicted effects + absent from control database) for a new autosomal dominant form of intellectual disability and epilepsy by Dyment et al. 2019, EJHG. The phenotypic concordance with a independent previous description of the same missense along with its in-silico deleterious predicted effect and its absence from controls meet our criteria to be classified as pathogenic. (less)
Clinical Features:
Intellectual disability (present)
Age: 0-9 years
Sex: female
Ethnicity/Population group: Caucasian
|
|
Pathogenic
(Sep 30, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability
(Sporadic)
Affected status: yes
Allele origin:
de novo
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV001434329.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
Recurrent variant in the litterature. De novo. 20A2340
Indication for testing: Syndromic intellectual disability
Sex: male
|
|
Pathogenic
(Jan 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
TRPM3 related disorder
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002058390.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000585073, PS1_S). The variant … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000585073, PS1_S). The variant has been observed in multiple (>3) similarly affected unrelated individuals(PMID: 31278393, PS4_S). It has been previously reported as de novo in a similarly affected individual (PMID: 31278393, PS2_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.743, PP3_P). A missense variant is a common mechanism associated with TRPM3-related intellectual disabilities with epilepsy (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Cerebellar ataxia (present) , Abnormal facial shape (present) , Delayed fine motor development (present) , Delayed gross motor development (present) , Generalized hypotonia (present) , … (more)
Cerebellar ataxia (present) , Abnormal facial shape (present) , Delayed fine motor development (present) , Delayed gross motor development (present) , Generalized hypotonia (present) , Intellectual disability (present) , Delayed speech and language development (present) , Depressed nasal bridge (present) , Hypertelorism (present) , Hyperventilation (present) (less)
|
|
Pathogenic
(Jan 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Birk-Barel syndrome
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580550.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 1
Sex: female
|
|
Pathogenic
(Oct 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant non-syndromic intellectual disability
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
Accession: SCV002577744.1
First in ClinVar: Oct 08, 2022 Last updated: Oct 08, 2022 |
Comment:
PS3;PS4;PM2_supporting;PM6;PP2;PP3
Clinical Features:
Intellectual disability (present) , Subcortical cerebral atrophy (present) , Talipes equinovarus (present) , Seizure (present) , Brachycephaly (present) , Abnormal facial shape (present) , Congenital … (more)
Intellectual disability (present) , Subcortical cerebral atrophy (present) , Talipes equinovarus (present) , Seizure (present) , Brachycephaly (present) , Abnormal facial shape (present) , Congenital muscular torticollis (present) , Strabismus (present) , Cerebral cortical atrophy (present) , Spastic tetraparesis (present) , Dystonic disorder (present) (less)
Sex: male
|
|
Likely pathogenic
(Aug 06, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
Affected status: yes
Allele origin:
germline
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
Accession: SCV003836707.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
|
Pathogenic
(May 03, 2023)
|
criteria provided, single submitter
Method: research
|
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
Affected status: yes
Allele origin:
de novo
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-HudsonAlpha
Accession: SCV004009625.1 First in ClinVar: Jul 08, 2023 Last updated: Jul 08, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability, moderate (present) , Hypotonia (present) , Seizure (present) , Delayed speech and language development (present) , Irritability (present)
|
|
Pathogenic
(May 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001155652.21
First in ClinVar: Feb 03, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 5
|
|
Pathogenic
(Mar 26, 2019)
|
no assertion criteria provided
Method: clinical testing
|
Seizure
Global developmental delay (Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Department of Pediatrics, University of Ottawa
Accession: SCV000891785.1
First in ClinVar: Apr 10, 2019 Last updated: Apr 10, 2019 |
Comment:
Identified de novo in each of six individuals with epilepsy and developmental delay by whole-exome trio sequencing.
Number of individuals with the variant: 6
Clinical Features:
Intellectual disability (present)
|
|
Pathogenic
(Nov 16, 2020)
|
no assertion criteria provided
Method: curation
|
Mulibrey nanism syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001445934.1
First in ClinVar: Nov 21, 2020 Last updated: Nov 21, 2020 |
Comment:
The heterozygous p.Val1002Met (Val837Met) variant in TRPM3 was identified by our study in 1 individual with intellectual disability and epilepsy, and also mulibrey nanism caused … (more)
The heterozygous p.Val1002Met (Val837Met) variant in TRPM3 was identified by our study in 1 individual with intellectual disability and epilepsy, and also mulibrey nanism caused by 2 variants in the compound heterozygous state in TRIM37. Trio genome analysis showed this variant to be de novo. The variant has been reported in 7 individuals with intellectual disability and epilepsy (PMID: 31278393), and was absent from large population studies. This variant was found to be de novo in all 7 individuals with confirmed paternity and maternity (PMID: 31278393), and has also been reported in ClinVar (Variation ID: 585073) and interpreted as pathogenic by department of pediatrics, University of Ottawa, and as uncertain significance by OMIM, and CeGaT Praxis fuer Humangenetik Tuebingen. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. The number of missense variants reported in TRPM3 in the general population is lower than expected, suggesting there is little benign variation in this gene and slightly increasing the possibility that a missense variant in this gene may not be tolerated. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant intellectual disability and epilepsy. ACMG/AMP Criteria applied: PS2_verystrong, PM2, PS4_moderate, PP2, PP3 (Richards 2015). (less)
|
|
Pathogenic
(Aug 02, 2023)
|
no assertion criteria provided
Method: literature only
|
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV001146963.4
First in ClinVar: Jan 26, 2020 Last updated: Aug 05, 2023 |
Comment on evidence:
By trio-based exome sequencing in 7 unrelated patients with neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS; 620224), Dyment … (more)
By trio-based exome sequencing in 7 unrelated patients with neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS; 620224), Dyment et al. (2019) identified a de novo heterozygous c.2509G-A transition (c.2509G-A, NM_020952.4) in the TRPM3 gene, resulting in a val837-to-met (V837M) substitution in the highly conserved S4-S5 linker region of one of several reported protein isoforms. The mutation was not present in the gnomAD database. The substitution is proposed to produce a conformational change during gated channel opening and thus have functional significance. Functional studies of the variant and studies of patient cells were not performed. The patients, who were ascertained through the GeneMatcher database, ranged in age from 6 to 38 years. From infancy, they showed poor overall growth with global developmental delay, hypotonia, delayed walking by around 5 years (2 patients were nonambulatory), moderately to severely impaired intellectual development with poor or absent speech, and lack of toilet training. All had epilepsy and/or various types of seizures confirmed by EEG with onset in early childhood. Dysmorphic craniofacial features included broad forehead, deep-set eyes, bulbous nasal tip, long nose, short or long philtrum, and micrognathia. Other more variable features included scoliosis, strabismus, cryptorchidism, foot or finger deformities, and abnormal movements. Brain imaging showed cortical atrophy/enlarged ventricles in 2 patients, but was normal in the other patients. In a 5-year-old French girl with NEDFSS, De Sainte Agathe et al. (2020) identified the recurrent de novo heterozygous V837M mutation in the TRPM3 gene through trio-based whole-exome sequencing. Functional studies were not performed. By trio-based whole-exome sequencing of a 7-year-old boy with NEDFSS, Gauthier et al. (2021) identified the de novo recurrent V837M mutation in the TRPM3 gene. Functional studies of the variant were not performed. Lines et al. (2022) identified the recurrent de novo heterozygous V837M mutation in 7 additional unrelated patients with NEDFSS identified through exome sequencing. Functional studies of the variant were not performed. The authors noted that clinical seizures were only observed in 2 patients. In a comment on TRPM3 nomenclature, Lines et al. (2022) noted that the V837M mutation in the TRPM3 gene is also known as V990M (c.2986G-A, NM_001007471.2) and V1002M (c.3004G-A, NM_001366145.2). They stated that TRPM3 has over 25 isoforms. Variant Function Zhao et al. (2020) performed in vitro functional expression studies of the V837M mutation (also known as V990M and V992M) in transfected Xenopus oocytes and HEK293 cells. The variants resulted in a constitutive gain-of-function effect with a left shift in the calcium concentration both in the basal state and in response to agonists. The slope of the increase in calcium current as a function of temperature was steeper for the mutant channel compared to wildtype. Application of the TRPM3 antagonist primidone inhibited calcium signaling evoked by agonists in both wildtype and mutant channels. These data showed that the disease-associated mutation rendered the TRPM3 channel overactive, possibly via different mechanisms, and the authors postulated that increased neuronal excitability and/or calcium-induced neuronal damage may underlie disease pathogenesis. In HEK293 cells, Van Hoeymissen et al. (2020) found that the TRPM3 variant V990M resulted in increased channel current densities compared to wildtype, both in the basal state and when stimulated by agonists. This was associated with a prominent inwardly rectifying current component for V990M. V990M channels also reduced sensitivity to calcium-dependent desensitization. The amplitude for the heat-induced channel response was also larger in cells carrying the variant compared to controls. Primidone application blocked V990M currents by about 50%. A gain-of-function effect was observed when the variant was were coexpressed with wildtype. These findings indicated that the mutation caused altered functional properties of the channel, and the authors hypothesized that increased calcium influx and depolarizing channel activity is the basis of seizure development and neurodevelopmental symptoms in patients carrying the mutation. (less)
|
|
not provided
(-)
|
no classification provided
Method: phenotyping only
|
TRPM3-Related Disorder
Affected status: yes
Allele origin:
de novo
|
GenomeConnect, ClinGen
Accession: SCV002074865.1
First in ClinVar: Feb 11, 2022 Last updated: Feb 11, 2022 |
Comment:
Variant interpreted as Pathogenic and reported on 12-04-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpreted as Pathogenic and reported on 12-04-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Abnormality of eye movement (present) , Cognitive impairment (present) , Abnormality of coordination (present) , Hypertonia (present) , Generalized hypotonia (present) , Abnormality of movement … (more)
Abnormality of eye movement (present) , Cognitive impairment (present) , Abnormality of coordination (present) , Hypertonia (present) , Generalized hypotonia (present) , Abnormality of movement (present) , Abnormality of facial musculature (present) , Abnormal muscle physiology (present) , Abnormal esophagus morphology (present) , Abnormal erythrocyte morphology (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: female
Testing laboratory: GeneDx
Date variant was reported to submitter: 2019-12-04
Testing laboratory interpretation: Pathogenic
|
|
not provided
(-)
|
Flagged submission
flagged submission
Method: phenotyping only
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000840172 appears to be redundant with SCV002074865.
(less)
Notes: SCV000840172 appears to
(...more)
Source: NCBI
|
Not Provided
Affected status: unknown
Allele origin:
de novo
|
GenomeConnect, ClinGen
Accession: SCV000840172.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Abnormality of the skull (present) , Abnormality of eye movement (present) , Seizures (present) , Generalized hypotonia (present) , EEG abnormality (present) , Abnormality of … (more)
Abnormality of the skull (present) , Abnormality of eye movement (present) , Seizures (present) , Generalized hypotonia (present) , EEG abnormality (present) , Abnormality of coordination (present) , Abnormality of muscle physiology (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: male
Testing laboratory: GeneDx
Date variant was reported to submitter: 2017-11-09
Testing laboratory interpretation: Uncertain significance
|
|
Pathogenic
(-)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV002568855 appears to be redundant with SCV003836707.
(less)
Notes: SCV002568855 appears to
(...more)
Source: NCBI
|
Not provided
Affected status: yes
Allele origin:
germline
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
Accession: SCV002568855.1
First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022 |
|
|
click to load more click to collapse | |||||
Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
---|---|---|---|---|
variation affecting protein
|
Department of Pediatrics, University of Ottawa
Accession: SCV000891785.1
|
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. | Lines MA | American journal of medical genetics. Part A | 2022 | PMID: 35146895 |
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant. | Gauthier LW | European journal of medical genetics | 2021 | PMID: 34438093 |
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3. | de Sainte Agathe JM | European journal of medical genetics | 2020 | PMID: 32439617 |
Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms. | Zhao S | eLife | 2020 | PMID: 32343227 |
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. | Dyment DA | European journal of human genetics : EJHG | 2019 | PMID: 31278393 |
A TRP channel trio mediates acute noxious heat sensing. | Vandewauw I | Nature | 2018 | PMID: 29539642 |
Text-mined citations for rs1564493599 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.