ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)

gnomAD frequency: 0.00001  dbSNP: rs938952718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001358811 SCV001554663 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738053 SCV004562641 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing The FLNA c.1555G>A; p.Val519Met variant (rs938952718), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1050855). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.547). Due to limited information, the clinical significance of this variant is uncertain at this time.

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