ClinVar Miner

Submissions for variant NC_000004.12:g.(?_150735238)_(150929085_?)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 RCV000805295 SCV000945246 uncertain significance Combined immunodeficiency due to LRBA deficiency 2020-10-24 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the protein in which other variant(s) (p.Arg1445Gln) have been observed in individuals with LRBA-related conditions (PMID: 26768763). This suggests that this may be a clinically significant region of the LRBA protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with LRBA-related conditions. This variant is an in-frame deletion of the genomic region encompassing exon(s) 3-36 of the LRBA gene. It preserves the integrity of the reading frame.

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