ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)

dbSNP: rs2067693064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211252 SCV001382781 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1248*) in the FLNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with periventricular nodular heterotopia (PMID: 16303888, 26471271). ClinVar contains an entry for this variant (Variation ID: 941466). For these reasons, this variant has been classified as Pathogenic.

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