ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1424177439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544119 SCV000636170 uncertain significance Nephronophthisis 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 229 of the NPHP3 protein (p.Cys229Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). 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. 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"). This variant has not been reported in the literature in individuals with NPHP3-related disease. ClinVar contains an entry for this variant (Variation ID: 462733).
Eurofins Ntd Llc (ga) RCV000734059 SCV000862170 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing

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