ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)

dbSNP: rs370659581
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000278360 SCV000343677 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487266 SCV002793584 uncertain significance Polycystic kidney disease 4 2021-12-16 criteria provided, single submitter clinical testing
Invitae RCV002522004 SCV003021600 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 3290 of the PKHD1 protein (p.Asp3290Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs370659581, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289330). 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 asparagine 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.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844824 SCV001877019 likely benign Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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