ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8108-16G>C

gnomAD frequency: 0.01832  dbSNP: rs73442356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242022 SCV000315837 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586826 SCV000699880 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.8108-16G>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 656/121014 control chromosomes (14 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0577145 (600/10396). This frequency is about 8 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the lack of effect on amino acid sequence, the lack of predicted effect on splicing, and the high frequency of the variant in the control population, this variant has been classified as benign.
Invitae RCV001274775 SCV001727857 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000586826 SCV001892351 benign not provided 2019-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274775 SCV001459179 benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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