ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)

dbSNP: rs1557177738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640729 SCV000762328 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-05-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). This variant has not been reported in the literature in individuals with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 533562). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1177*) in the FLNA gene. It is expected to result in an absent or disrupted protein product.

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