ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)

dbSNP: rs1557178045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389179 SCV001590447 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln989*) in the FLNA gene. It is expected to result in an absent or disrupted protein product. 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 been observed in individual(s) with periventricular nodular heterotopia (PMID: 29738522). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency).

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