ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)

dbSNP: rs1299129734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732558 SCV000860526 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485921 SCV002785134 uncertain significance Polycystic kidney disease 4 2021-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892645 SCV004717147 uncertain significance PKHD1-related disorder 2024-01-19 criteria provided, single submitter clinical testing The PKHD1 c.11378C>T variant is predicted to result in the amino acid substitution p.Ala3793Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian 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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