ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn)

gnomAD frequency: 0.00003  dbSNP: rs1060503156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459069 SCV000552110 uncertain significance Nephronophthisis 2021-07-27 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NPHP3-related disease. This sequence change replaces serine with asparagine at codon 993 of the NPHP3 protein (p.Ser993Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine.

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