ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) (rs121434487)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000008546 SCV000194384 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000008546 SCV000028754 pathogenic Lissencephaly 1 2001-08-14 no assertion criteria provided literature only
Baylor Genetics RCV000008546 SCV000328809 likely pathogenic Lissencephaly 1 2014-12-19 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in PAFAH1B1 (NM_000430.3, c.484G>A) and FGD1 (NM_004463.2, c.527delC) in this individual with reported features of intrauterine growth restriction, delayed motor milestones, delayed speech, autism, intellectual disability, hearing loss, hypotonia, seizure disorder, ataxia, dysmorphic features, short stature, microcephaly, failure to thrive, eye anomalies, skeletal abnormalities and scoliosis, and structural brain anomalies. The PAFAH1B1 variant has been reported in one patient with a mild LIS1 phenotype [PMID: 11115846, 12885786]. The FGD1 variant is predicted to cause a frameshift and is categorized as deleterious by ACMGG guidelines [PMID: 18414213].

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