ClinVar Miner

Submissions for variant NM_014271.4(IL1RAPL1):c.621_623AGA[1] (p.Glu208del) (rs1064795372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484971 SCV000571122 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing The c.624_c.626delAGA variant in the IL1RAPL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.624_c.626delAGA variant causes an in-frame deletion of codon Glutamic Acid 208, denoted p.Glu208del. This deletion occurs at a residue that is conserved among species. The c.624_c.626delAGA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.624_c.626delAGA variant is a strong candidate for a pathogenic variant, however, the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV000509346 SCV000607029 not provided IL1RAPL1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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