ClinVar Miner

Submissions for variant NC_000014.8:g.(?_54416336)_54418690del

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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 RCV001383549 SCV001582715 pathogenic Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2020-03-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 and part of exon 3 of the BMP4 gene (c.251_*414del). While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with BMP4-related conditions. This variant disrupts the C-terminus of the BMP4 protein. Other variant(s) that disrupt this region (p.Arg198*) have been determined to be pathogenic (PMID: 21340693). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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