ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter)

dbSNP: rs758404336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905031 SCV002130197 pathogenic Autosomal recessive polycystic kidney disease 2022-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2280*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is present in population databases (rs758404336, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with PKHD1-related conditions (PMID: 30650191, 31938409). ClinVar contains an entry for this variant (Variation ID: 1363680). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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