ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.840G>A (p.Gly280=)

gnomAD frequency: 0.00003  dbSNP: rs778823870
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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 RCV001496131 SCV001700822 likely benign Tay-Sachs disease 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298887 SCV004000392 likely benign Inborn genetic diseases 2023-04-11 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.
CeGaT Center for Human Genetics Tuebingen RCV004598004 SCV005092663 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing HEXA: BP4, BP7

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