ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)

gnomAD frequency: 0.00002  dbSNP: rs755286726
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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) RCV000729581 SCV000857254 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485868 SCV002787214 uncertain significance Polycystic kidney disease 4 2021-12-19 criteria provided, single submitter clinical testing
Invitae RCV002535123 SCV003460379 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2266 of the PKHD1 protein (p.Ala2266Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs755286726, ExAC 0.008%). 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: 594320). 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: "Possibly 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.

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