ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2451C>T (p.Pro817=)

gnomAD frequency: 0.00006  dbSNP: rs782192587
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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 RCV001512917 SCV001720418 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445065 SCV002732096 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-23 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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