ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)

gnomAD frequency: 0.00002  dbSNP: rs200129776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590685 SCV000699879 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.8036T>C (p.Leu2679Pro) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index) and it is located outside of commonly known domains/repeats (InterPro, UniProt). This variant was found in 1/121370 control chromosomes from ExAC at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711). 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. There is no clustering of clinically important missense variants at this region (ref. HGMD and ClinVar). Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Natera, Inc. RCV001829631 SCV002077999 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-22 no assertion criteria provided clinical testing

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