ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003033870 SCV003325215 likely pathogenic Congenital myasthenic syndrome 18 2022-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with clinical features of SNAP25-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 25 of the SNAP25 protein (p.Ser25Leu).
GeneDx RCV003235755 SCV003933452 likely pathogenic not provided 2024-07-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Molecular Genetics Lab, CHRU Brest RCV003033870 SCV004697683 likely pathogenic Congenital myasthenic syndrome 18 criteria provided, single submitter clinical testing

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