ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter)

dbSNP: rs1933255436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250540 SCV001425353 pathogenic Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2020-03-13 criteria provided, single submitter clinical testing This CLCN5 variant is absent from a large population dataset and has not been reported in the literature, to our knowledge. This nonsense variant results in a premature stop codon in exon 3 of 12 likely leading to nonsense-mediated decay and lack of protein production. Due to the fact that female carriers have been reported to have low-molecular weight proteinuria, consistent with the clinical findings in this patient, we consider this variant to be pathogenic.

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