ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met)

dbSNP: rs368313554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735160 SCV000863361 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Invitae RCV001322620 SCV001513499 uncertain significance Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1130 of the NPHP4 protein (p.Val1130Met). This variant is not present in population databases (gnomAD no frequency). 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: 598703). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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