ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)

gnomAD frequency: 0.00001  dbSNP: rs775097870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815536 SCV000955995 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 3826 of the PKHD1 protein (p.His3826Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs775097870, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000815536 SCV001455052 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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