ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)

gnomAD frequency: 0.00003  dbSNP: rs374447352
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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 RCV000588575 SCV000699858 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.262G>A (p.Val88Leu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to UniProt ID not being available in program). Val88 is not located in a known functional domain of Fibrocystin. However, these predictions have yet to be confirmed by functional studies. This variant was not found in 121350 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. 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. RCV001271833 SCV001453291 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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