ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1007G>A (p.Arg336His) (rs760417941)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409189 SCV000486656 likely pathogenic Homocystinuria due to CBS deficiency 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000409189 SCV000959121 pathogenic Homocystinuria due to CBS deficiency 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 336 of the CBS protein (p.Arg336His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs760417941, ExAC 0.002%). This variant has been observed in individuals affected with homocystinuria (PMID: 9870207, 23974653, 25218699). ClinVar contains an entry for this variant (Variation ID: 371147). Experimental studies have shown that this missense change abolishes CBS activity (PMID: 22267502, 23974653, 16429402). For these reasons, this variant has been classified as Pathogenic.

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