NM_001130682.3(GUCY1A1):c.1295T>C (p.Leu432Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 24, 2023
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:: RCV004320202.1

Allele description [Variation Report for NM_001130682.3(GUCY1A1):c.1295T>C (p.Leu432Pro)]

NM_001130682.3(GUCY1A1):c.1295T>C (p.Leu432Pro)

Gene:

GUCY1A1:guanylate cyclase 1 soluble subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

Preferred name:

NM_001130682.3(GUCY1A1):c.1295T>C (p.Leu432Pro)

HGVS:

NC_000004.12:g.155713306T>C
NG_034128.1:g.51597T>C
NM_000856.6:c.1295T>C
NM_001130682.3:c.1295T>CMANE SELECT
NM_001130683.4:c.1295T>C
NM_001130684.3:c.1295T>C
NM_001130685.3:c.590T>C
NM_001130687.3:c.1295T>C
NM_001256449.2:c.1295T>C
NM_001379666.1:c.1295T>C
NM_001379667.1:c.1295T>C
NM_001379668.1:c.1295T>C
NM_001379669.1:c.1295T>C
NM_001379670.1:c.1295T>C
NM_001379671.1:c.1295T>C
NM_001379672.1:c.1295T>C
NM_001379673.1:c.1295T>C
NM_001379674.1:c.1295T>C
NM_001379675.1:c.1295T>C
NM_001379676.1:c.788T>C
NP_000847.2:p.Leu432Pro
NP_001124154.1:p.Leu432Pro
NP_001124155.1:p.Leu432Pro
NP_001124156.1:p.Leu432Pro
NP_001124157.1:p.Leu197Pro
NP_001124159.1:p.Leu432Pro
NP_001243378.1:p.Leu432Pro
NP_001366595.1:p.Leu432Pro
NP_001366596.1:p.Leu432Pro
NP_001366597.1:p.Leu432Pro
NP_001366598.1:p.Leu432Pro
NP_001366599.1:p.Leu432Pro
NP_001366600.1:p.Leu432Pro
NP_001366601.1:p.Leu432Pro
NP_001366602.1:p.Leu432Pro
NP_001366603.1:p.Leu432Pro
NP_001366604.1:p.Leu432Pro
NP_001366605.1:p.Leu263Pro
NC_000004.11:g.156634458T>C
NM_001130683.2:c.1295T>C

Protein change:

L197P

Molecular consequence:

NM_000856.6:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130682.3:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130683.4:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130684.3:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130685.3:c.590T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130687.3:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256449.2:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379666.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379667.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379668.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379669.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379670.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379671.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379672.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379673.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379674.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379675.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001379676.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Profile neighbors for GEO Profiles (Select 64990914) (199)
GEO Profiles
Homo sapiens EPM2A glucan phosphatase, laforin (EPM2A), transcript variant 2, mR...
Homo sapiens EPM2A glucan phosphatase, laforin (EPM2A), transcript variant 2, mRNA
gi|66346727|ref|NM_001018041.1|

Nucleotide
Mus musculus dehydrodolichyl diphosphate synthase (Dhdds), mRNA
Mus musculus dehydrodolichyl diphosphate synthase (Dhdds), mRNA
gi|142381204|ref|NM_026144.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003986659	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003986659

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 24, 2023)

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, SCV003986659.2

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

Description

The c.1295T>C (p.L432P) alteration is located in exon 7 (coding exon 5) of the GUCY1A3 gene. This alteration results from a T to C substitution at nucleotide position 1295, causing the leucine (L) at amino acid position 432 to be replaced by a proline (P). 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: Nov 3, 2024

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