ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.202G>A (p.Gly68Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004798114 SCV005419246 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-11-25 criteria provided, single submitter clinical testing The c.202G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our internal database. This variant has neither been published in literature with SGCA-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like Polyphen-2, MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a mutational hotspot region of the gene and a different amino acid change in the same codon (Gly68Glu) has been previously observed in affected individuals [PMID: 7663524] and reported to the ClinVar database as ‘Pathogenic’.

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