ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153639844)_(153642537_?)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 RCV001383139 SCV001582166 pathogenic 3-Methylglutaconic aciduria type 2 2022-08-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-5 of the TAZ gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). A similar copy number variant has been observed in individual(s) with clinical features of Barth syndrome (PMID: 22382802, 22410210). For these reasons, this variant has been classified as Pathogenic.

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