ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)

gnomAD frequency: 0.00001  dbSNP: rs781988346
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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 RCV001906214 SCV002170326 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422996 SCV002730449 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-07-08 criteria provided, single submitter clinical testing The p.G702S variant (also known as c.2104G>A), located in coding exon 13 of the FLNA gene, results from a G to A substitution at nucleotide position 2104. The glycine at codon 702 is replaced by serine, an amino acid with similar properties. This amino acid position is not well 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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