ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)

gnomAD frequency: 0.00006  dbSNP: rs200075504
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518751 SCV000615218 uncertain significance not specified 2017-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090958 SCV001246753 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001834675 SCV002992213 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 117 of the SGCA protein (p.Arg117Trp). This variant is present in population databases (rs200075504, gnomAD 0.009%). 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: 448352). 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 not expected to disrupt SGCA protein function. 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 RCV001834675 SCV003931661 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834675 SCV002087561 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-11-11 no assertion criteria provided clinical testing

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