ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) (rs1060500718)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466787 SCV000543677 pathogenic Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 2017-06-22 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 36 of the FLNA mRNA (c.5964_5965delCT), causing a frameshift at codon 1989. This creates a premature translational stop signal (p.Cys1989Phefs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). For these reasons, this variant has been classified as Pathogenic.

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