ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1087G>A (p.Val363Met)

gnomAD frequency: 0.00003  dbSNP: rs373624347
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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) RCV000730658 SCV000858410 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV001318396 SCV001509095 uncertain significance Nephronophthisis 2022-07-06 criteria provided, single submitter clinical testing 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: "Possibly 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. ClinVar contains an entry for this variant (Variation ID: 595176). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs373624347, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 363 of the NPHP4 protein (p.Val363Met).

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