ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala)

gnomAD frequency: 0.00004  dbSNP: rs1398646157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232721 SCV001405289 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1269 of the PKHD1 protein (p.Val1269Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). 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 RCV003346396 SCV004074931 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.3806T>C (p.V1269A) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a T to C substitution at nucleotide position 3806, causing the valine (V) at amino acid position 1269 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001232721 SCV002080982 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-13 no assertion criteria provided clinical testing

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