ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2447G>A (p.Arg816His) (rs139230055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675627 SCV000113231 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000081313 SCV000582134 uncertain significance not specified 2017-05-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PYGM gene. The R816H variant has been previously reported as a homozygous change in a consanguineous family with non-syndromic intellectual disability; additional variants were also identified and the authors concluded that the R816H only partially contributes to the phenotype in the family. (Makrythanasis et at., 2014). The R816H variant is observed in 7/16512 (0.04%) alleles from individuals of South Asian background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R816H variant a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675627 SCV000801327 uncertain significance not provided 2017-04-12 no assertion criteria provided clinical testing

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