ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) (rs587776640)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007111 SCV000027307 pathogenic Fanconi anemia, complementation group G 2005-05-01 no assertion criteria provided literature only
Baylor Miraca Genetics Laboratories, RCV000007111 SCV000328838 pathogenic Fanconi anemia, complementation group G 2015-04-25 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in FANCG (NM_004629.1, c.637_643del) and G6PD (NM_001042351.1, c.563C>T) in one individual with reported features of intrauterine growth restriction, profound motor and speech delay, intellectual disability, macrocephaly, progressive hydrocephalus, congenital occipital encephalocele, bilateral sensorineural hearing loss, short stature, dysmorphic features, vision loss, congenital right unilateral hypoplasia of depressor anguli oris, feeding difficulties, hypertonia in four extremities, hyperreflexia, joint stiffness, wound dehiscence, and G6PD deficiency. The apparently homozygous c.637_643del (p.Y213fs) FANCG variant has been reported as disease causing (OMIM:602956.0008; PMID 15657175). An affected sibling, who had features consistent with Fanconi anemia, was also homozygous for this variant.

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