ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.486+1G>A (rs756522171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671252 SCV000796209 likely pathogenic Neuronal ceroid lipofuscinosis 6 2017-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719064 SCV000849928 likely pathogenic Seizures 2016-11-02 criteria provided, single submitter clinical testing The c.486+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 4 of the CLN6 gene. 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 nucleotide position is highly conserved in available vertebrate species. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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