ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4722C>T (p.Asp1574=)

gnomAD frequency: 0.00002  dbSNP: rs1057521758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000865195 SCV000524434 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001401822 SCV001603655 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022379 SCV005017565 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-23 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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