Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178201 | SCV000230218 | pathogenic | not provided | 2014-12-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825935 | SCV000967420 | uncertain significance | not specified | 2018-10-10 | criteria provided, single submitter | clinical testing | The p.Gln171ValfsExtX8 variant in HESX1 has not been previously reported in indi viduals with septo-optic dysplasia but has been identified in 0.1% (10/9844) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift altering the protein?s terminal 14 am ino acids beginning at position 171, abolishing the stop codon, and extending th e protein by 8 amino acids. It is unclear if this alteration will impact the pro tein. In summary, the clinical significance of the p.Gln171ValfsExtX8 variant is uncertain. ACMG/AMP Criteria applied: PM4. |