ClinVar Miner

Submissions for variant NC_000001.11:g.(?_218405159)_(218405342_?)dup

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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 RCV001824398 SCV001195133 likely pathogenic Loeys-Dietz syndrome 4 2019-04-14 criteria provided, single submitter clinical testing Loss-of-function variants in TGFB2 are known to be pathogenic (PMID: 22772368, 22772371). This variant has been observed in an individual with clinical features of TGFB2-related conditions (Invitae). This variant results in a copy number gain of the genomic region encompassing exon 2 of the TGFB2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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