ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1371+4G>C

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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 RCV002654739 SCV003521640 uncertain significance Spinocerebellar ataxia type 19/22 2022-02-05 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the KCND3 gene. It does not directly change the encoded amino acid sequence of the KCND3 protein. It affects a nucleotide within the consensus splice site.

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