ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.146C>T (p.Ala49Val)

gnomAD frequency: 0.00001  dbSNP: rs763420553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063906 SCV001228775 uncertain significance Nephronophthisis 2022-11-22 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: 858100). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 49 of the NPHP3 protein (p.Ala49Val).
Fulgent Genetics, Fulgent Genetics RCV002489682 SCV002799655 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-03-17 criteria provided, single submitter clinical testing

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