ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)

gnomAD frequency: 0.00003  dbSNP: rs750459196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706996 SCV000836072 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 198 of the SGCD protein (p.Arg198Gln). 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 SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 582822). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002485775 SCV002792682 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-09-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000706996 SCV003931881 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233831 SCV003931882 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659186 SCV005157070 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The p.R198Q variant (also known as c.593G>A), located in coding exon 7 of the SGCD gene, results from a G to A substitution at nucleotide position 593. The arginine at codon 198 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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