ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2287G>A (p.Ala763Thr)

dbSNP: rs1644089326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933100 SCV002188710 uncertain significance Nephronophthisis 2021-12-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 763 of the NPHP4 protein (p.Ala763Thr).
PreventionGenetics, part of Exact Sciences RCV004733416 SCV005347832 uncertain significance NPHP4-related disorder 2024-03-29 no assertion criteria provided clinical testing The NPHP4 c.2287G>A variant is predicted to result in the amino acid substitution p.Ala763Thr. To our knowledge, this variant has not been reported in the literature or in gnomAD, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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