ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs) (rs1057518696)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415288 SCV000328802 pathogenic Holoprosencephaly 9 2014-06-19 no assertion criteria provided clinical testing A heterozygous pathogenic variant in the GLI2 gene was detected in this individual. This change is categorized as deleterious according to ACMG guidelines [PMID: 18414213]. This individual has delayed motor milestones, delayed speech, intellectual disability, hypotonia, dysmorphic features (prominent chin, mild plagiocephaly), short stature, microcephaly, strabismus, and an ectopic posterior pituitary. A likely pathogenic variant in KDM5C (NM_004187.3, c.1439C>T) was also reported in this individual.

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