ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)

dbSNP: rs1933979876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002499463 SCV002812112 likely pathogenic Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2022-01-19 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328284 SCV001449235 likely pathogenic Dent disease type 1 2018-06-07 no assertion criteria provided clinical testing This individual is hemizygous for the c.1354del variant in the CLCN5 gene. This frameshifting variant is predicted to create a premature stop codon p.(Ser452Leufs*13) 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 ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/?term=CLCN5[gene]). This variant is considered to be likely pathogenic according to the ACMG guidelines.

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