ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) (rs116180923)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000319373 SCV000331127 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000657929 SCV000779698 uncertain significance not provided 2019-01-04 criteria provided, single submitter clinical testing The R642C variant in the PYGM gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R642C variant is observed in 107/24020 (0.4455%) alleles from individuals of African American background and in 135/277146 (0.0487%) global alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). The R642C 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. The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R642C as a variant of uncertain significance.

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