ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)

gnomAD frequency: 0.00049  dbSNP: rs112030234
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734724 SCV000862888 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001033975 SCV001197298 likely benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243285 SCV003938704 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.10531G>A (p.G3511R) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 10531, causing the glycine (G) at amino acid position 3511 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000734724 SCV004039697 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003424325 SCV004117289 uncertain significance PKHD1-related disorder 2023-01-19 criteria provided, single submitter clinical testing The PKHD1 c.10531G>A variant is predicted to result in the amino acid substitution p.Gly3511Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51524393-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001033975 SCV001453258 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-19 no assertion criteria provided clinical testing

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