ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.458A>G (p.Asp153Gly) (rs752000538)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458794 SCV000552987 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 153 of the SGCD protein (p.Asp153Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs752000538, ExAC 0.2%) but has not been reported in the literature in individuals with a SGCD-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596325 SCV000704325 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing

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