ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn)

gnomAD frequency: 0.00014  dbSNP: rs782555930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000473615 SCV001897530 benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063674 SCV002407925 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393185 SCV002670795 benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-09 criteria provided, single submitter clinical testing This alteration is classified as 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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