ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)

gnomAD frequency: 0.00001  dbSNP: rs1557176627
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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 RCV002313373 SCV000739121 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-22 criteria provided, single submitter clinical testing The p.D1701E variant (also known as c.5103C>A), located in coding exon 29 of the FLNA gene, results from a C to A substitution at nucleotide position 5103. The aspartic acid at codon 1701 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002232770 SCV000949547 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-02-14 criteria provided, single submitter clinical testing

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