ClinVar Miner

Submissions for variant NC_000009.11:g.(?_79792621)_(80944002_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001953529 SCV002241881 pathogenic Neu-Laxova syndrome 2 2022-06-22 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PSAT1 gene has been identified. Loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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