ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del)

dbSNP: rs766573820
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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) RCV000591556 SCV000709014 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV001854109 SCV002197597 uncertain significance Nephronophthisis 2022-06-27 criteria provided, single submitter clinical testing This variant, c.158_160del, results in the deletion of 1 amino acid(s) of the NPHP3 protein (p.Ala53del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs766573820, gnomAD 0.03%).
Fulgent Genetics, Fulgent Genetics RCV002476336 SCV002801353 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-04-04 criteria provided, single submitter clinical testing

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