ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs)

dbSNP: rs2148104376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995963 SCV002272932 likely pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-10-24 criteria provided, single submitter clinical testing Studies have shown that this premature translational stop signal alters FLNA gene expression (PMID: 26059841). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this premature translational stop signal results in skipping of exon 39 (also known as exon 40), but is expected to preserve the integrity of the reading-frame (PMID: 26059841). This variant is also known as c.6425_6428delAGAG (p.Glu2142Alafs*22). This premature translational stop signal has been observed in individual(s) with chronic idiopathic intestinal pseudo-obstruction (PMID: 26059841). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2134Alafs*22) in the FLNA gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and likely results in a shortened protein product.

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