ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.95T>C (p.Val32Ala)

dbSNP: rs1017592342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963134 SCV002243373 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces valine with alanine at codon 32 of the SGCA protein (p.Val32Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 30764848). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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 SGCA protein function.
Baylor Genetics RCV001963134 SCV005056694 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-22 criteria provided, single submitter clinical testing

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