ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.398TGA[1] (p.Met134del)

dbSNP: rs1886979623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065790 SCV001230774 uncertain significance Galactosylceramide beta-galactosidase deficiency 2022-09-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 859632). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant, c.401_403del, results in the deletion of 1 amino acid(s) of the GALC protein (p.Met134del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity Omics RCV003132203 SCV003816308 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing

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