ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu)

dbSNP: rs797044684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723973 SCV000227918 uncertain significance not provided 2014-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000723973 SCV000250384 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing p.Asp1116Glu (GAC>GAA): c.3348 C>A in exon 22 of the FLNA gene (NM_001456.3) The D1116E variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the D1116E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties; the D1116 residue is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with periventricular heterotopia, Ehlers-Danlos variant.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD
Labcorp Genetics (formerly Invitae), Labcorp RCV002517695 SCV003462434 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-03-17 criteria provided, single submitter clinical testing

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