ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter)

dbSNP: rs782121971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000851369 SCV002556730 likely pathogenic Heterotopia, periventricular, X-linked dominant 2022-06-20 criteria provided, single submitter clinical testing The FLNA c.1119C>G variant is classified as LIKELY PATHOGENIC (PVS1, PM2) The FLNA c.1119C>G variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 373. This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs782121971) and has been reported as Likely pathogenic by other diagnostic laboratories (ClinVar Variation ID: 626251). It has not been reported in HGMD.
Molecular Genetics Center, Sichuan Provincial People's Hospital RCV000851369 SCV000891779 likely pathogenic Heterotopia, periventricular, X-linked dominant no assertion criteria provided research

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