ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis)

dbSNP: rs2128184229
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001917010 SCV002192676 uncertain significance Autosomal recessive polycystic kidney disease 2021-10-18 criteria provided, single submitter clinical testing This variant, c.2729_2731delinsCTC, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the PKHD1 protein (p.Val910_Asn911delinsAlaHis). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database.

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