ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.223-3T>C

gnomAD frequency: 0.00001  dbSNP: rs776314679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301996 SCV001491183 uncertain significance Neuronal ceroid lipofuscinosis 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the CLN3 gene. It does not directly change the encoded amino acid sequence of the CLN3 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs776314679, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CLN3-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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