ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)

dbSNP: rs863223636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198493 SCV000250417 likely pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Stop codon loss and change to a stop codon, leading to protein extension and the addition of 100 amino acids at the C-terminus in a gene for which protein extension is a known mechanism of disease; Also known as p.(Ter2648SerextTer101); This variant is associated with the following publications: (PMID: 28428218, 23873601)
Baylor Genetics RCV003333048 SCV004041354 pathogenic Heterotopia, periventricular, X-linked dominant 2023-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765249 SCV004604770 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-07 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FLNA mRNA. It is expected to extend the length of the FLNA protein by 100 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individual(s) with bilateral periventricular heterotopia, congenital short bowel, and additional FLNA-related conditions (PMID: 23873601, 28428218). It has also been observed to segregate with disease in related individuals. This variant is also known as c.7941_7942delCT (p.2648Serext*100). ClinVar contains an entry for this variant (Variation ID: 213498). Studies have shown that this protein extension alters FLNA gene expression (PMID: 23873601, 28428218). For these reasons, this variant has been classified as Pathogenic.

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