ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) (rs142054672)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675637 SCV000224967 uncertain significance not provided 2014-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000675637 SCV000582943 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing The N413Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N413Y variant is observed in 116/18,784 (0.62%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The N413Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000675637 SCV001115122 benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675637 SCV000801338 uncertain significance not provided 2017-05-24 no assertion criteria provided clinical testing

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