NM_001381853.1(CHML):c.590A>T (p.Asp197Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004242808.1

Allele description [Variation Report for NM_001381853.1(CHML):c.590A>T (p.Asp197Val)]

NM_001381853.1(CHML):c.590A>T (p.Asp197Val)

Genes:

CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
OPN3:opsin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_001381853.1(CHML):c.590A>T (p.Asp197Val)

HGVS:

NC_000001.11:g.241635177T>A
NM_001381853.1:c.590A>TMANE SELECT
NM_001381854.1:c.590A>T
NM_001381855.1:c.*550A>T
NM_001381856.1:c.*856A>T
NM_001821.4:c.590A>T
NM_014322.3:c.373+4705A>TMANE SELECT
NP_001368782.1:p.Asp197Val
NP_001368783.1:p.Asp197Val
NP_001812.2:p.Asp197Val
NC_000001.10:g.241798479T>A
NM_001821.3:c.590A>T

Protein change:

D197V

Molecular consequence:

NM_001381855.1:c.*550A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001381856.1:c.*856A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_014322.3:c.373+4705A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001381853.1:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001381854.1:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001821.4:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003758761	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003758761

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 13, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003758761.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.590A>T (p.D197V) alteration is located in exon 1 (coding exon 1) of the CHML gene. This alteration results from a A to T substitution at nucleotide position 590, causing the aspartic acid (D) at amino acid position 197 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine