ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)

dbSNP: rs1161291343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671951 SCV000796998 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2018-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671951 SCV001580104 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-07-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 103 of the SGCA protein (p.Ile103Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 9032047, 25135358). ClinVar contains an entry for this variant (Variation ID: 556014). 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 with a positive predictive value of 95%. This variant disrupts the p.Ile103 amino acid residue in SGCA. Other variant(s) that disrupt this residue have been observed in individuals with SGCA-related conditions (PMID: 17994539; Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000671951 SCV004203157 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000671951 SCV004238644 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-03-28 criteria provided, single submitter clinical testing

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