Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Geisinger Autism and Developmental Medicine Institute, |
RCV000678314 | SCV000804373 | likely pathogenic | not provided | 2017-08-01 | criteria provided, single submitter | provider interpretation | This variant was identified in a 3 year old male with global developmental delay, expressive language disorder, mild hypotonia, short stature, dolichocephaly, laterally arched eyebrows, epicanthal folds, bulbous nasal tip, bowed upper lip, small toes, sleep disorder, and a history of prematurity. The variant is absent from the gnomAD database, and it was found to be de novo (with maternity and paternity confirmed). Computational models predict it to be deleterious. This variant has not been reported previously in a clinical setting, to our knowledge. Additionally, whole exome sequencing also identified two additional variants of uncertain significance, which were not considered to be good candidates for potential diagnosis based on clinical correlation. |