ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.408_409del (p.Lys137fs)

dbSNP: rs1085307068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490429 SCV000267348 likely pathogenic Geroderma osteodysplastica 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001853387 SCV002178682 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 225381). This variant has not been reported in the literature in individuals affected with GORAB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys162Serfs*24) in the GORAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GORAB are known to be pathogenic (PMID: 18997784, 19681135).
Genome-Nilou Lab RCV000490429 SCV004048838 likely pathogenic Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000490429 SCV005630156 likely pathogenic Geroderma osteodysplastica 2024-02-05 criteria provided, single submitter clinical testing

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