ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.152G>A (p.Arg51His)

gnomAD frequency: 0.00010  dbSNP: rs143751283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001285 SCV001158464 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-06-02 criteria provided, single submitter clinical testing The SGCB c.152G>A; p.Arg51His variant (rs143751283), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only eight chromosomes (8/277198 alleles) in the Genome Aggregation Database. The arginine at codon 51 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. However, due to limited information, the clinical significance of the p.Arg51His variant is uncertain at this time.
Natera, Inc. RCV001001285 SCV001462207 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-03-10 no assertion criteria provided clinical testing

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