ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)

gnomAD frequency: 0.00001  dbSNP: rs1557175646
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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 RCV002233041 SCV000762334 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360567 SCV002662020 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-09-02 criteria provided, single submitter clinical testing The p.S2344F variant (also known as c.7031C>T), located in coding exon 42 of the FLNA gene, results from a C to T substitution at nucleotide position 7031. The serine at codon 2344 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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