ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser)

dbSNP: rs1557699489
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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) RCV000728352 SCV000855910 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV001862144 SCV002187262 uncertain significance Nephronophthisis 2022-05-27 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 613 of the NPHP4 protein (p.Asn613Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 593340). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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.
Fulgent Genetics, Fulgent Genetics RCV002485860 SCV002791260 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2021-08-25 criteria provided, single submitter clinical testing

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