ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.397G>C (p.Glu133Gln)

dbSNP: rs746717495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934566 SCV002134275 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 133 of the SGCD protein (p.Glu133Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs746717495, ExAC 0.002%). This variant has not been reported in the literature in individuals with SGCD-related conditions. 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.

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