ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.736A>T (p.Asn246Tyr)

gnomAD frequency: 0.00001  dbSNP: rs747907287
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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 RCV001886380 SCV002151917 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 246 of the SGCB protein (p.Asn246Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is present in population databases (rs747907287, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. 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.

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