ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) (rs149565564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592720 SCV000702610 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764467 SCV000895532 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001035032 SCV001198339 uncertain significance Nephronophthisis 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 315 of the NPHP3 protein (p.Asp315Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs149565564, ExAC 0.01%). This variant has not been reported in the literature in individuals with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497874). 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: "Benign"; 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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