ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057950 SCV001222479 pathogenic Fanconi anemia 2020-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr213Lysfs*6) in the FANCG gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in many individuals affected with Fanconi anemia (FA) and is a common cause of FA in the South African population (PMID: 15657175, 24136620, 26968956). ClinVar contains an entry for this variant (Variation ID: 6719). Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007111 SCV000027307 pathogenic Fanconi anemia, complementation group G 2005-05-01 no assertion criteria provided literature only
Baylor Genetics 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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