ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001251460 SCV001427157 pathogenic Dent disease type 1 2018-10-25 criteria provided, single submitter clinical testing A hemizygous nonsense variant, NM_000084.4(CLCN5):c.1231A>T, has been identified in exon 8 of 12 of the CLCN5 gene. The variant is predicted to result in a premature stop codon at position 411 of the protein (NP_000075.1(CLCN5):p.(Lys411*)). It is predicted to result in loss of protein function through nonsense mediated decay, which is a reported mechanism of pathogenicity for this gene. The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not been previously reported in clinical cases. However, other pathogenic LoF variants are reported throughout the gene (ClinVar, HGMD). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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