ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2041A>G (p.Ile681Val)

gnomAD frequency: 0.00002  dbSNP: rs1218293876
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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 RCV002000541 SCV002262644 uncertain significance Nephronophthisis 2022-07-12 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1481419). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 681 of the NPHP3 protein (p.Ile681Val).
Fulgent Genetics, Fulgent Genetics RCV005032057 SCV005658917 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-04-20 criteria provided, single submitter clinical testing

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