ClinVar Miner

Submissions for variant NC_000019.9:g.(?_6495175)_(6502223_?)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 RCV003116527 SCV003791408 uncertain significance Hypomyelinating leukodystrophy 6 2022-08-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TUBB4A gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TUBB4A cause disease. 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 TUBB4A-related conditions. A similar copy number variant has been observed in at least one individual who was not affected with TUBB4A-related conditions (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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