ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) (rs191913664)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724060 SCV000226650 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000724060 SCV000513951 uncertain significance not provided 2018-09-15 criteria provided, single submitter clinical testing The R735W variant in the NPHP4 gene has been reported previously in association with nephronophthisis, as a single heterozygous variant in one individual and with unknown phase with another NPHP4 variant in another individual who was also reported to have potentially causative variants in another gene (Hoefele et al., 2005; Davis et al., 2011). The R735W variant is observed in 48/22,796 (0.21%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R735W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R735W as a variant of uncertain significance.
Invitae RCV001088494 SCV001000798 likely benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986226 SCV001135158 uncertain significance Nephronophthisis 4 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100471 SCV001256993 uncertain significance Senior-Loken syndrome 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000986226 SCV001259092 uncertain significance Nephronophthisis 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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