ClinVar Miner

Submissions for variant NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)

dbSNP: rs747165958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331851 SCV001523991 likely pathogenic Polycystic kidney disease 5 2019-09-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004754732 SCV005359282 likely pathogenic DZIP1L-related disorder 2024-03-18 no assertion criteria provided clinical testing The DZIP1L c.727C>T variant is predicted to result in premature protein termination (p.Gln243*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0064% of alleles in individuals of African descent in gnomAD. Nonsense variants in DZIP1L are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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