ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003245668 SCV003952140 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.1701A>C (p.E567D) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 1701, causing the glutamic acid (E) at amino acid position 567 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003900999 SCV004710085 uncertain significance PKHD1-related disorder 2024-02-27 criteria provided, single submitter clinical testing The PKHD1 c.1701A>C variant is predicted to result in the amino acid substitution p.Glu567Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/). 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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