ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)

gnomAD frequency: 0.00001  dbSNP: rs773010322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001158305 SCV001319936 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002480564 SCV002787582 uncertain significance Polycystic kidney disease 4 2022-02-22 criteria provided, single submitter clinical testing
Invitae RCV001158305 SCV002933420 uncertain significance Autosomal recessive polycystic kidney disease 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2944 of the PKHD1 protein (p.Ile2944Val). This variant is present in population databases (rs773010322, gnomAD 0.02%). 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: 908046). 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.
Ambry Genetics RCV003163346 SCV003883827 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.8830A>G (p.I2944V) alteration is located in exon 57 (coding exon 56) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 8830, causing the isoleucine (I) at amino acid position 2944 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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