ClinVar Miner

Submissions for variant NC_000010.10:g.(?_126100603)_(126140009_?)del

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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 RCV004580397 SCV005064402 pathogenic Ornithine aminotransferase deficiency 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with OAT-related conditions. This variant results in the deletion of exon 1 and part of exon 2 (c.-32597_138del) of the OAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OAT are known to be pathogenic (PMID: 1737786, 23076989).

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