ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.437G>T (p.Gly146Val)

dbSNP: rs1438925313
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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 RCV000639553 SCV000761129 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-10-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 146 of the SGCD protein (p.Gly146Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. 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: 532694). 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: "Possibly 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.

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