ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.190C>T (p.His64Tyr)

dbSNP: rs770669291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197669 SCV000252151 uncertain significance not provided 2013-09-05 criteria provided, single submitter clinical testing p.His64Tyr (CAT>TAT): c.190 C>T in exon 2 of the PUS1 gene (NM_025215.5) A variant of unknown significance has been identified in the PUS1 gene. The H64Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Histidine residue is replaced by an uncharged Tyrosine residue. This change occurs at a position in the PUS1 protein that is not highly conserved. Multiple in-silico analysis programs predict that H64Y is a benign sequence change. Therefore, based on the currently available information, it is unclear whether H64Y is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001274957 SCV001459545 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-01-24 no assertion criteria provided clinical testing

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