ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys)

dbSNP: rs148691090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594651 SCV000702482 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983138 SCV004800207 uncertain significance PKHD1-related disorder 2024-02-15 criteria provided, single submitter clinical testing The PKHD1 c.11789T>A variant is predicted to result in the amino acid substitution p.Met3930Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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