ClinVar Miner

Submissions for variant NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys)

dbSNP: rs1567714106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312481 SCV000847067 uncertain significance Inborn genetic diseases 2016-06-13 criteria provided, single submitter clinical testing The p.Y209C variant (also known as c.626A>G), located in coding exon 7 of the PNPO gene, results from an A to G substitution at nucleotide position 626. The tyrosine at codon 209 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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