ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)

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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 RCV002688239 SCV003549188 likely benign Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003973733 SCV004787028 uncertain significance PKHD1-related disorder 2024-02-21 criteria provided, single submitter clinical testing The PKHD1 c.3184G>A variant is predicted to result in the amino acid substitution p.Ala1062Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino 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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