ClinVar Miner

Submissions for variant NC_000009.12:g.(?_108869105)_(108903679_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379108 SCV001576844 likely pathogenic not provided 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-37 of the ELP1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant disrupts the p.Arg696 amino acid residue in ELP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11179008, 11179021, 12116234). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000812677 SCV000952999 likely pathogenic Familial dysautonomia 2018-08-15 flagged submission clinical testing This variant is a gross deletion of the genomic region encompassing exons 15-37 of the IKBKAP gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. 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 IKBKAP-related disease. An variant that disrupts the p.Arg696 amino acid residue in IKBKAP has been observed in affected individuals (PMID: 11179008, 11179021, 12116234, 11179021). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. 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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