ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser)

gnomAD frequency: 0.00001  dbSNP: rs373846495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733175 SCV000861206 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV001855700 SCV002207446 uncertain significance Nephronophthisis 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 553 of the NPHP3 protein (p.Asn553Ser). This variant is present in population databases (rs373846495, gnomAD 0.002%). 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: 597145). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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.

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