ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn)

dbSNP: rs878855204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228094 SCV000291344 uncertain significance Autosomal recessive polycystic kidney disease 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 3157 of the PKHD1 protein (p.Ala3157Asn). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 241848). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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