ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.1736C>T (p.Thr579Met)

gnomAD frequency: 0.00020  dbSNP: rs149409320
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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 RCV000942349 SCV001088271 benign not provided 2018-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029723 SCV004871289 likely benign Inborn genetic diseases 2023-12-19 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.
PreventionGenetics, part of Exact Sciences RCV003942965 SCV004765618 likely benign FRMPD4-related disorder 2022-11-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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