ClinVar Miner

Submissions for variant NM_052874.5(STX1B):c.430T>C (p.Cys144Arg)

dbSNP: rs2143669286
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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 RCV001994254 SCV002274344 pathogenic Generalized epilepsy with febrile seizures plus, type 9 2024-03-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 144 of the STX1B protein (p.Cys144Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with STX1B-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1481736). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STX1B protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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