ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.847G>C (p.Asp283His)

gnomAD frequency: 0.00001  dbSNP: rs766674286
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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) RCV000734111 SCV000862227 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001306869 SCV001496254 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 283 of the SGCA protein (p.Asp283His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome-Nilou Lab RCV001306869 SCV003931704 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001306869 SCV002087580 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-11-11 no assertion criteria provided clinical testing

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