ClinVar Miner

Submissions for variant NC_000009.11:g.(?_80919631)_(80923519_?)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 RCV002029708 SCV002115736 pathogenic Neu-Laxova syndrome 2 2023-12-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the PSAT1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant disrupts a region of the PSAT1 protein in which other variant(s) (p.Asp100Ala) have been determined to be pathogenic (PMID: 17436247). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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