ClinVar Miner

Submissions for variant NM_018671.5(UNC45A):c.766dup (p.Ala256fs)

dbSNP: rs766346918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986323 SCV002287213 uncertain significance not provided 2021-09-21 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with UNC45A-related conditions. This variant is present in population databases (rs766346918, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ala256Glyfs*11) in the UNC45A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in UNC45A cause disease.
Institute of Human Genetics, University of Leipzig Medical Center RCV003883735 SCV004698046 pathogenic Cholestasis-edema syndrome, Norwegian type 2024-02-01 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PM3_SUP

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