ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) (rs1554221478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668772 SCV000793425 uncertain significance Autosomal recessive polycystic kidney disease 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000668772 SCV000835561 likely pathogenic Autosomal recessive polycystic kidney disease 2018-08-17 criteria provided, single submitter clinical testing This variant, c.8651_8653delTAG, results in the deletion of 1 amino acid(s) of the PKHD1 protein (p.Val2884del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with polycystic kidney disease (PMID: 15698423, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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