NM_001287.6(CLCN7):c.2258C>T (p.Ser753Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 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:: RCV003108984.5

Allele description [Variation Report for NM_001287.6(CLCN7):c.2258C>T (p.Ser753Leu)]

NM_001287.6(CLCN7):c.2258C>T (p.Ser753Leu)

Gene:

CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001287.6(CLCN7):c.2258C>T (p.Ser753Leu)

HGVS:

NC_000016.10:g.1447079G>A
NG_007567.1:g.33006C>T
NM_001114331.3:c.2186C>T
NM_001287.6:c.2258C>TMANE SELECT
NP_001107803.1:p.Ser729Leu
NP_001278.1:p.Ser753Leu
NC_000016.9:g.1497080G>A

Protein change:

S729L

Molecular consequence:

NM_001114331.3:c.2186C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001287.6:c.2258C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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SRP091765 (4)
SRA
uncharacterized protein YGR026W [Saccharomyces cerevisiae S288C]
uncharacterized protein YGR026W [Saccharomyces cerevisiae S288C]
gi|398365179|ref|NP_011540.3|

Protein
origin recognition complex subunit 1 [Saccharomyces cerevisiae S288C]
origin recognition complex subunit 1 [Saccharomyces cerevisiae S288C]
gi|6323575|ref|NP_013646.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003783481	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 11, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26220970, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003783481

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 11, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Di Resta C, Pietrelli A, Sala S, Della Bella P, De Bellis G, Ferrari M, Bordoni R, Benedetti S.

Hum Mol Genet. 2015 Oct 15;24(20):5828-35. doi: 10.1093/hmg/ddv302. Epub 2015 Jul 28.

PubMed [citation]

PMID:: 26220970

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003783481.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This missense change has been observed in individual(s) with Brugada syndrome (PMID: 26220970). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 753 of the CLCN7 protein (p.Ser753Leu).

#	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: Sep 29, 2024

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