ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.894G>A (p.Ala298=)

gnomAD frequency: 0.00002  dbSNP: rs532778217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538591 SCV000657530 likely benign Brown-Vialetto-van Laere syndrome 1 2023-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377170 SCV002683647 likely benign Inborn genetic diseases 2019-07-11 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.

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