ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) (rs150384171)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185812 SCV000238758 uncertain significance not specified 2017-01-16 criteria provided, single submitter clinical testing The c.262_264delGAG variant has been published as a pathogenic variant in association with transcobalamin II receptor defect in a patient with an abnormal newborn screening result for methylmalonic aciduria as well as in an infant with bilateral central retinal artery occlusions and hyperhomocysteinemia (Quadros et al., 2010; Karth et al., 2012). It has not been reported as a benign variant to our knowledge. However, the 1000 Genomes Project reports c.262_264delGAG was observed in 1.4% of alleles from Asian individuals and in 3.3% of alleles from individuals from Great Britain indicating that c.262_264delGAG may be a rare (benign) variant in these populations. The deletion of three nucleotides results in the loss of a single Glutamic Acid residue at amino acid position 88, denoted p.Glu88del. The loss of this amino acid has been shown to affect the function of the CD320 protein in vitro (Quadros et al., 2010). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000004499 SCV000267241 likely pathogenic Methylmalonic aciduria due to transcobalamin receptor defect 2016-03-18 criteria provided, single submitter reference population
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224888 SCV000280766 likely benign not provided 2016-02-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000224888 SCV000676997 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224888 SCV000700738 other not provided 2017-03-15 criteria provided, single submitter clinical testing
Mendelics RCV000004499 SCV001140969 uncertain significance Methylmalonic aciduria due to transcobalamin receptor defect 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004499 SCV000024673 pathogenic Methylmalonic aciduria due to transcobalamin receptor defect 2010-08-01 no assertion criteria provided literature only

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