ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)

gnomAD frequency: 0.00001  dbSNP: rs1270625423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325084 SCV001516061 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 355 of the SGCA protein (p.Arg355Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1024851). 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%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001325084 SCV005649545 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001325084 SCV002087593 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-11-17 no assertion criteria provided clinical testing

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