ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) (rs568496266)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483076 SCV000568096 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing The I447L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I447L variant is observed in 68/12330 (0.55%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and missense variants in nearby residues (M442K; G449R; S450L) have been reported in the Human Gene Mutation Database in association with McArdle disease (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000281232 SCV000373018 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing

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