ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)

dbSNP: rs781698219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796918 SCV000936453 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 828 of the PKHD1 protein (p.Tyr828Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs781698219, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002537032 SCV003757620 uncertain significance Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing The c.2483A>G (p.Y828C) alteration is located in exon 24 (coding exon 23) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 2483, causing the tyrosine (Y) at amino acid position 828 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000796918 SCV001463317 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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