ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.566A>G (p.Lys189Arg) (rs538002169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457156 SCV000552990 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-08-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 189 of the SGCD protein (p.Lys189Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs538002169, ExAC 0.03%). This variant has not been reported in the literature in individuals with SGCD-related disease. ClinVar contains an entry for this variant (Variation ID: 411709). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732478 SCV000860443 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing

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