ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp)

gnomAD frequency: 0.00001  dbSNP: rs758834151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039853 SCV001203402 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 1510 of the PKHD1 protein (p.Ala1510Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs758834151, ExAC 0.002%). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid 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.
Natera, Inc. RCV001039853 SCV001459384 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-10 no assertion criteria provided clinical testing

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