ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln)

gnomAD frequency: 0.00009  dbSNP: rs148537653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549095 SCV000637036 likely benign Brugada syndrome 2024-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350244 SCV002648141 likely benign Cardiovascular phenotype 2020-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003114658 SCV003798777 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing Identified in a patient with corneal neuralgia in published literature (Yuan et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32766464)

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