ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)

gnomAD frequency: 0.01071  dbSNP: rs2499482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080408 SCV000291332 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249499 SCV000315801 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590148 SCV000699856 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.3876C>T (p.Thr1292Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. This variant was found in 419/120698 control chromosomes (including 9 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.035141 (359/10216). This frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory has classified this variant as benign. Taken together, this variant is classified as Benign.
GeneDx RCV000590148 SCV001829619 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080408 SCV002080977 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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