ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729487 SCV000857155 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000698687 SCV000897306 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000698687 SCV000827367 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 48 of the PKHD1 protein (p.Gly48Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs557361225, ExAC 0.01%). This variant has not been reported in the literature in individuals with PKHD1-related disease. 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 aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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