ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.542+5G>T

dbSNP: rs786205066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512748 SCV003442980 uncertain significance Neuronal ceroid lipofuscinosis 2022-01-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 15996215). ClinVar contains an entry for this variant (Variation ID: 4085). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 15996215). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the CLN6 gene. It does not directly change the encoded amino acid sequence of the CLN6 protein. It affects a nucleotide within the consensus splice site.
OMIM RCV000004300 SCV000024466 pathogenic Ceroid lipofuscinosis, neuronal, 6A 2005-08-01 no assertion criteria provided literature only

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