ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)

dbSNP: rs903823830
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665054 SCV000789113 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000665054 SCV000937162 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 31 of the SGCA protein (p.Leu31Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 9032047, 12566530, 18285821, 29351619). ClinVar contains an entry for this variant (Variation ID: 550333). 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. Experimental studies have shown that this missense change affects SGCA function (PMID: 22095924, 29351619). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Network, NIH RCV000665054 SCV001432771 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-06-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665054 SCV003931628 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665054 SCV004203177 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-02-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000665054 SCV004238349 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-14 criteria provided, single submitter clinical testing

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