ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1686G>A (p.Gly562=)

gnomAD frequency: 0.00001  dbSNP: rs782730676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311207 SCV000320536 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-12-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002518734 SCV003335909 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-10-25 criteria provided, single submitter clinical testing

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