NM_001127898.4(CLCN5):c.1394T>G (p.Leu465Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 3, 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:: RCV002012524.6

Allele description [Variation Report for NM_001127898.4(CLCN5):c.1394T>G (p.Leu465Arg)]

NM_001127898.4(CLCN5):c.1394T>G (p.Leu465Arg)

Gene:

CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001127898.4(CLCN5):c.1394T>G (p.Leu465Arg)

HGVS:

NC_000023.11:g.50086707T>G
NG_007159.3:g.169092T>G
NM_000084.5:c.1184T>G
NM_001127898.4:c.1394T>GMANE SELECT
NM_001127899.4:c.1394T>G
NM_001282163.2:c.1244T>G
NP_000075.1:p.Leu395Arg
NP_001121370.1:p.Leu465Arg
NP_001121371.1:p.Leu465Arg
NP_001269092.1:p.Leu415Arg
NC_000023.10:g.49851364T>G

Protein change:

L395R

Links:

dbSNP: rs782359395

NCBI 1000 Genomes Browser:

rs782359395

Molecular consequence:

NM_000084.5:c.1184T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127898.4:c.1394T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127899.4:c.1394T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282163.2:c.1244T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens formin homology 2 domain containing 1 (FHOD1), transcrip...
PREDICTED: Homo sapiens formin homology 2 domain containing 1 (FHOD1), transcript variant X1, mRNA
gi|2462548670|ref|XM_054380160.1|

Nucleotide
FH1/FH2 domain-containing protein 1 isoform 1 [Homo sapiens]
FH1/FH2 domain-containing protein 1 isoform 1 [Homo sapiens]
gi|1005261204|ref|NP_001305131.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002279497	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002279497

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 3, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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, SCV002279497.3

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

Description

This variant is present in population databases (rs782359395, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 395 of the CLCN5 protein (p.Leu395Arg). This variant has not been reported in the literature in individuals affected with CLCN5-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1492930).

#	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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