ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)

gnomAD frequency: 0.00005  dbSNP: rs373089783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705113 SCV000250393 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Invitae RCV000640752 SCV000762351 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317720 SCV000849653 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-05-25 criteria provided, single submitter clinical testing The p.N1773S variant (also known as c.5318A>G), located in coding exon 31 of the FLNA gene, results from an A to G substitution at nucleotide position 5318. The asparagine at codon 1773 is replaced by serine, an amino acid with highly 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.
Revvity Omics, Revvity RCV001705113 SCV003832717 uncertain significance not provided 2020-10-20 criteria provided, single submitter clinical testing

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