ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)

dbSNP: rs797044808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003417691 SCV004112947 pathogenic CLCN5-related condition 2022-12-07 criteria provided, single submitter clinical testing The CLCN5 c.100C>T variant is predicted to result in premature protein termination (p.Arg34*). This variant has been reported to have occurred de novo or be inherited from a mother with nephrolithiasis in two hemizygous patients with Dent disease (Hoopes et al. 1998. PubMed ID: 9734595; Wen et al. 2018. PubMed ID: 30581818). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CLCN5 are expected to be pathogenic. This variant is interpreted as pathogenic.
GeneReviews RCV000192273 SCV000243781 not provided Dent disease type 1 no assertion provided literature only

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