ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)

gnomAD frequency: 0.00003  dbSNP: rs188212919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192424 SCV000247392 uncertain significance not specified 2014-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088605 SCV000639773 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000192424 SCV000728444 benign not specified 2017-04-26 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.
Athena Diagnostics RCV000711668 SCV000842055 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426921 SCV002744552 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-20 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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