ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) (rs1227254537)

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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 RCV000720262 SCV000851139 uncertain significance Seizures 2016-08-04 criteria provided, single submitter clinical testing The p.Y142C variant (also known as c.425A>G), located in coding exon 4 of the CLN6 gene, results from an A to G substitution at nucleotide position 425. The tyrosine at codon 142 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 6498 samples (12996 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 alteration remains unclear.

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