ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)

dbSNP: rs890921874
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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 RCV000648059 SCV000769869 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-07-19 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. This variant disrupts the p.Gly91 amino acid residue in SGCA. Other variant(s) that disrupt this residue have been observed in individuals with SGCA-related conditions (PMID: 17994539), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 538661). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 91 of the SGCA protein (p.Gly91Cys).
Revvity Omics, Revvity RCV000648059 SCV003827564 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-02-15 criteria provided, single submitter clinical testing

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