ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn)

dbSNP: rs1557180197
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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 RCV001299481 SCV001488573 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-06-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 61 of the FLNA protein (p.Ser61Asn). This missense change has been observed in individual(s) with Marfan syndrome (PMID: 27724990). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function. ClinVar contains an entry for this variant (Variation ID: 1002985).
Baylor Genetics RCV003147607 SCV003835454 uncertain significance Heterotopia, periventricular, X-linked dominant 2022-08-29 criteria provided, single submitter clinical testing

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