ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)

gnomAD frequency: 0.00003  dbSNP: rs782561908
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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 RCV002019406 SCV002285635 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324466 SCV002610968 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-30 criteria provided, single submitter clinical testing The p.S1081N variant (also known as c.3242G>A), located in coding exon 21 of the FLNA gene, results from a G to A substitution at nucleotide position 3242. The serine at codon 1081 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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