ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)

gnomAD frequency: 0.00001  dbSNP: rs781855364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870460 SCV002126419 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-05-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536377 SCV004118374 uncertain significance FLNA-related disorder 2023-02-27 criteria provided, single submitter clinical testing The FLNA c.4432G>T variant is predicted to result in the amino acid substitution p.Ala1478Ser. This variant was reported in an individual with pulmonary arterial hypertension and congenital heart defects (Table S4 - Zhu et al. 2018. PubMed ID: 30029678). This variant is reported in 0.0074% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-153587394-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV004793540 SCV005411500 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing PP2, PM1_supporting, PM2_moderate

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