ClinVar Miner

Submissions for variant NC_000018.10:g.(?_3447720)_(3457960_?)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 RCV000796792 SCV000936320 pathogenic Holoprosencephaly 4 2018-09-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TGIF1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of TGIF1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 16199538, 19431187, 17001671, 22125506). Loss-of-function variants in TGIF1 are known to be pathogenic (PMID: 16962354, 22125506). For these reasons, this variant has been classified as Pathogenic.

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