ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu)

gnomAD frequency: 0.00006  dbSNP: rs200272048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595993 SCV000708199 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764009 SCV000894961 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001347904 SCV001542185 uncertain significance Nephronophthisis 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 85 of the NPHP4 protein (p.Pro85Leu). This variant is present in population databases (rs200272048, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 501720). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002532614 SCV003752568 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.254C>T (p.P85L) alteration is located in exon 3 (coding exon 2) of the NPHP4 gene. This alteration results from a C to T substitution at nucleotide position 254, causing the proline (P) at amino acid position 85 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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