ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1121G>T (p.Ser374Ile)

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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 RCV003562305 SCV004293789 pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 374 of the SPTBN2 protein (p.Ser374Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of spinocerebellar ataxia (Invitae). In at least one individual the variant was observed to be de novo. 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 SPTBN2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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