ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp)

dbSNP: rs146097715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595528 SCV000703302 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001860169 SCV002285479 uncertain significance Nephronophthisis 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1020 of the NPHP3 protein (p.Gly1020Asp). This variant is present in population databases (rs146097715, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 498330). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002483592 SCV002780894 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-02 criteria provided, single submitter clinical testing

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