ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.625G>T (p.Val209Leu)

gnomAD frequency: 0.00001  dbSNP: rs563129062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798310 SCV000937918 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 209 of the SGCG protein (p.Val209Leu). This variant is present in population databases (rs563129062, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 644403). 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 SGCG protein function with a negative predictive value of 80%. 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.
Natera, Inc. RCV000798310 SCV002086109 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-02-23 no assertion criteria provided clinical testing

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