ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)

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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 RCV001252964 SCV001427205 pathogenic Dent disease type 1 2018-10-24 criteria provided, single submitter clinical testing A hemizygous duplication variant, NM_000084.4(CLCN5):c.1119dupC, has been identified in exon 8 of 12 of the CLCN5 gene. This duplication is predicted to create a frameshift starting at amino acid position 374, introducing a stop codon two residues downstream (NP_000075.1(CLCN5):p. (Asn374Glnfs*2)). This variant 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, many other upstream and downstream loss of function variants have been reported pathogenic (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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