ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)

gnomAD frequency: 0.00001  dbSNP: rs782482207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350272 SCV001544660 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350656 SCV002619347 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-22 criteria provided, single submitter clinical testing The p.G1215S variant (also known as c.3643G>A), located in coding exon 21 of the FLNA gene, results from a G to A substitution at nucleotide position 3643. The glycine at codon 1215 is replaced by serine, an amino acid with similar 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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