ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3238G>A (p.Asp1080Asn)

gnomAD frequency: 0.00008  dbSNP: rs376528831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524565 SCV000637014 benign Brugada syndrome 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001704669 SCV000730435 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24998131, 30821013, 28407228)
Baylor Genetics RCV001333543 SCV001526155 uncertain significance Episodic pain syndrome, familial, 2 2018-02-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002323949 SCV002609538 likely benign Cardiovascular phenotype 2019-06-12 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.

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