ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)

dbSNP: rs1327580871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304068 SCV001493336 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 206 of the SGCD protein (p.Lys206Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1006947). 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: "Benign"; 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 RCV002486179 SCV002787780 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001304068 SCV003931885 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234033 SCV003931886 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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