ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)

gnomAD frequency: 0.00004  dbSNP: rs375317119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173661 SCV000224800 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000173661 SCV001991183 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002492729 SCV002780794 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516596 SCV003286825 uncertain significance Nephronophthisis 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 370 of the NPHP1 protein (p.Ala370Gly). This variant is present in population databases (rs375317119, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 193568). 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 tolerated. 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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