ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1730del (p.Ala577fs)

dbSNP: rs1933984291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328285 SCV001449236 likely pathogenic Dent disease type 1 2018-11-16 no assertion criteria provided clinical testing This individual is hemizygous for the c.1520del variant in the CLCN5 gene. This frameshifting variant is predicted to create a premature stop codon p.(Ala507Valfs*5) and may result in a null allele due to nonsense-mediated mRNA decay. The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. However, other truncating variants downstream of this amino acid have been described in the ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/?term=CLCN5[gene]). This variant is considered to be likely pathogenic according to the ACMG guidelines. (Evidence used: PVS1, PM2).

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