ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) (rs1471300485)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678315 SCV000804374 uncertain significance Carpenter syndrome 2 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 computational models predict it to be deleterious. This variant has not been reported previously in a clinical setting, to our knowledge. A second VUS in MEGF8 (p.Arg2172Cys) was also identified in trans. Clinical correlation with Carpenter syndrome 2 was thought to be poor. Additionally, whole exome sequencing also identified a likely pathogenic variant that likely explains the patient's presentation and history.

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