ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)

dbSNP: rs574376340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000486077 SCV000342760 uncertain significance not provided 2016-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000486077 SCV000574208 likely pathogenic not provided 2020-01-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Counsyl RCV000675090 SCV000800612 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000675090 SCV000831032 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 181 of the SGCA protein (p.Arg181Ser). 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: 288595). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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