ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln)

gnomAD frequency: 0.00010  dbSNP: rs142084136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295594 SCV001484522 uncertain significance Nephronophthisis 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 833 of the NPHP3 protein (p.Glu833Gln). This variant is present in population databases (rs142084136, gnomAD 0.03%). 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: 999580). 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.
Fulgent Genetics, Fulgent Genetics RCV002504431 SCV002813285 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538453 SCV003738003 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2497G>C (p.E833Q) alteration is located in exon 18 (coding exon 18) of the NPHP3 gene. This alteration results from a G to C substitution at nucleotide position 2497, causing the glutamic acid (E) at amino acid position 833 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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