ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1377G>A (p.Thr459=)

gnomAD frequency: 0.00001  dbSNP: rs769077319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226480 SCV001398795 likely benign Nephronophthisis 2022-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398973 SCV004120414 uncertain significance NPHP4-related condition 2022-12-15 criteria provided, single submitter clinical testing The NPHP4 c.11G>A variant is predicted to result in the amino acid substitution p.Arg4Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5987773-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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