ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) (rs558267822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522784 SCV000618216 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing The R293W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R293W variant is observed in 43/16,292 (0.26%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000313797 SCV000373030 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing

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