ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)

gnomAD frequency: 0.00002  dbSNP: rs748017071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580763 SCV001810571 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV003227980 SCV003924885 uncertain significance not provided 2022-11-11 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 RCV003426180 SCV004117764 uncertain significance PKHD1-related disorder 2023-09-29 criteria provided, single submitter clinical testing The PKHD1 c.1218G>T variant is predicted to result in the amino acid substitution p.Glu406Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51924741-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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