ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala)

gnomAD frequency: 0.00001  dbSNP: rs1292890415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879021 SCV002145882 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 2954 of the PKHD1 protein (p.Thr2954Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. 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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