ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)

gnomAD frequency: 0.00019  dbSNP: rs78361537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633430 SCV000754654 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2579 of the PKHD1 protein (p.Ala2579Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs78361537, ExAC 0.1%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Eurofins Ntd Llc (ga) RCV000731742 SCV000859591 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000731742 SCV002558269 uncertain significance not provided 2022-01-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000633430 SCV002078012 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-06 no assertion criteria provided clinical testing

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