ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)

gnomAD frequency: 0.00003  dbSNP: rs142346881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707171 SCV000836256 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 182 of the PKHD1 protein (p.Ala182Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs142346881, ExAC 0.006%). 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: 161826). 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: "Tolerated"; 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 RCV003242990 SCV003952010 uncertain significance Inborn genetic diseases 2023-05-08 criteria provided, single submitter clinical testing The c.544G>A (p.A182T) alteration is located in exon 8 (coding exon 7) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 544, causing the alanine (A) at amino acid position 182 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Science for Life laboratory, Karolinska Institutet RCV000149362 SCV000089004 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.
Natera, Inc. RCV000707171 SCV002083402 uncertain significance Autosomal recessive polycystic kidney disease 2018-07-27 no assertion criteria provided clinical testing

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