ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn)

gnomAD frequency: 0.00001  dbSNP: rs1485769153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313372 SCV000739120 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-06 criteria provided, single submitter clinical testing The p.S2518N variant (also known as c.7553G>A), located in coding exon 45 of the FLNA gene, results from a G to A substitution at nucleotide position 7553. The serine at codon 2518 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855278 SCV002169998 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-09-27 criteria provided, single submitter clinical testing

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