ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)

dbSNP: rs1555568335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498091 SCV000589661 likely pathogenic not provided 2021-01-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24742800, 27857043, 30345904, 30838351)
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824141 SCV002073814 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001824141 SCV003931645 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001824141 SCV004298276 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 76 of the SGCA protein (p.Leu76Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 24742800, 30345904). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 432007). 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. For these reasons, this variant has been classified as Pathogenic.

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