ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)

dbSNP: rs886061615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345961 SCV000464049 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV003151045 SCV003839878 uncertain significance not specified 2022-12-27 no assertion criteria provided clinical testing DNA sequence analysis of the PKHD1 gene demonstrated a sequence change, c.8677C>G, in exon 56 that results in an amino acid change, p.His2893Asp. This sequence change does not appear to have been previously described in individuals with PKHD1-related disorders and has also not been described in population databases such as ExAC and gnomAD (dbSNP rs886061615). The p.His2893Asp change affects a moderately conserved amino acid residue located in a domain of the PKHD1 protein that is not known to be functional. The p.His2893Asp substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.His2893Asp change remains unknown at this time.

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