ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002938844 SCV003271540 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 1307 of the PKHD1 protein (p.Gln1307Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is present in population databases (rs572226863, ExAC 0.009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003961255 SCV004779040 uncertain significance PKHD1-related disorder 2024-02-19 criteria provided, single submitter clinical testing The PKHD1 c.3920A>T variant is predicted to result in the amino acid substitution p.Gln1307Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004067238 SCV005006793 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.3920A>T (p.Q1307L) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a A to T substitution at nucleotide position 3920, causing the glutamine (Q) at amino acid position 1307 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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