ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly)

gnomAD frequency: 0.00005  dbSNP: rs782583650
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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) RCV000593962 SCV000709433 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062106 SCV002357544 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000593962 SCV005420097 uncertain significance not provided 2024-06-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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