ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)

gnomAD frequency: 0.00003  dbSNP: rs752000538
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458794 SCV000552987 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 153 of the SGCD protein (p.Asp153Gly). This variant is present in population databases (rs752000538, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 411706). 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 SGCD protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Eurofins Ntd Llc (ga) RCV000596325 SCV000704325 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000596325 SCV001792289 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 411706; Landrum et al., 2016)
Ambry Genetics RCV002339185 SCV002637526 uncertain significance Inborn genetic diseases 2024-01-27 criteria provided, single submitter clinical testing The p.D153G variant (also known as c.458A>G), located in coding exon 5 of the SGCD gene, results from an A to G substitution at nucleotide position 458. The aspartic acid at codon 153 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489082 SCV002791857 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000458794 SCV003931851 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233644 SCV003931852 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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