ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)

gnomAD frequency: 0.00003  dbSNP: rs565528098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464210 SCV000545844 uncertain significance Autosomal recessive polycystic kidney disease 2022-04-25 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 2576 of the PKHD1 protein (p.Ile2576Val). This variant is present in population databases (rs565528098, gnomAD 0.004%). 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: 406888). 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.
Fulgent Genetics, Fulgent Genetics RCV002480378 SCV002782631 uncertain significance Polycystic kidney disease 4 2022-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022613 SCV005005320 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.7726A>G (p.I2576V) alteration is located in exon 48 (coding exon 47) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 7726, causing the isoleucine (I) at amino acid position 2576 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000464210 SCV002078016 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-12 no assertion criteria provided clinical testing

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