ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) (rs1557655967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory,Harran University RCV000709700 SCV000693854 likely pathogenic Xia-Gibbs syndrome 2018-03-12 no assertion criteria provided clinical testing This missense mutation (c.4370A>G) in AHDC1 gene is found in two years old girl from Turkey who presented developmental delay, no speech, seizures, structural brain anomalies, microcephaly, brachycephaly, operated craniosynostosis, hypotonia, feeding problems, protuberant ears, strabismus, snoring, laryngomalacia, constipation and electrolyte imbalance.
OMIM RCV000709700 SCV001449159 pathogenic Xia-Gibbs syndrome 2020-12-07 no assertion criteria provided literature only

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