ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.374G>A (p.Arg125Gln) (rs781444670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000178709 SCV000791085 likely pathogenic Homocystinuria due to CBS deficiency 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723426 SCV000230842 pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing
Invitae RCV000178709 SCV000649834 pathogenic Homocystinuria due to CBS deficiency 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 125 of the CBS protein (p.Arg125Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs781444670, ExAC 0.003%). This variant has been reported in numerous individuals affected with homocystinuria both in the homozygous and compound heterozygous state (PMID: 7849717, 9587029, 12124992, 10338090), with evidence of co-segregation with disease in one family (PMID: 21520339). ClinVar contains an entry for this variant (Variation ID: 197625). Experimental studies have shown that this missense change causes a deleterious effect on CBS protein structure and function (PMID: 7849717, 22612060, 20506325, 20308073). For these reasons, this variant has been classified as Pathogenic.

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