ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.486C>G (p.Asn162Lys)

dbSNP: rs1085307826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490074 SCV000577388 likely pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing The N162K variant in the PURA gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N162K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N162K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N162K as a likely pathogenic variant.
Mendelics RCV002248714 SCV002519242 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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