ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.789C>T (p.Asp263=)

gnomAD frequency: 0.00001  dbSNP: rs1057523997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426494 SCV000534188 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001483682 SCV001688083 likely benign X-linked myopathy with postural muscle atrophy 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379380 SCV002674479 likely benign Cardiovascular phenotype 2019-08-19 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.

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