ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1958A>G (p.Asn653Ser)

gnomAD frequency: 0.00019  dbSNP: rs140204686
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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 RCV002235829 SCV001092322 likely benign Distal hereditary motor neuropathy type 2 2024-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029782 SCV004063657 likely benign not specified 2023-06-21 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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