ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.883T>C (p.Tyr295His)

dbSNP: rs2505401169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448766 SCV004176467 uncertain significance Ceroid lipofuscinosis, neuronal, 6A 2023-02-14 criteria provided, single submitter clinical testing The missense c.883T>C(p.Tyr295His) variant in CLN6 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Tyr295His variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Tyr295His in CLN6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Tyr at position 295 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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