ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)

dbSNP: rs1060500717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728731 SCV000856340 pathogenic not provided 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV001387919 SCV001588674 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-07-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 405446). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.6724C>T p.Arg2242X. This premature translational stop signal has been observed in individual(s) with periventricular heterotopia (PMID: 16684786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2234*) 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).

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