ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val)

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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 RCV003342129 SCV004061624 uncertain significance Inborn genetic diseases 2023-06-28 criteria provided, single submitter clinical testing The c.10681A>G (p.I3561V) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 10681, causing the isoleucine (I) at amino acid position 3561 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003420670 SCV004114711 uncertain significance PKHD1-related disorder 2022-10-24 criteria provided, single submitter clinical testing The PKHD1 c.10681A>G variant is predicted to result in the amino acid substitution p.Ile3561Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51524243-T-C). 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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