ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=)

gnomAD frequency: 0.00003  dbSNP: rs372375216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697545 SCV000719342 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063256 SCV002392479 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697545 SCV002564136 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7
Ambry Genetics RCV002413718 SCV002680861 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-08-02 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.

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