ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.676G>A (p.Ala226Thr) (rs763835246)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412334 SCV000485691 likely pathogenic Classic homocystinuria 2016-01-29 criteria provided, single submitter clinical testing
Invitae RCV000412334 SCV001412523 pathogenic Classic homocystinuria 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 226 of the CBS protein (p.Ala226Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with homocystinuria (PMID: 14635102, 21520339, 15365998). ClinVar contains an entry for this variant (Variation ID: 370382). This variant has been reported to affect CBS protein function (PMID: 14635102, 22267502, 20066033, 16429402, 17540596, 9590298). For these reasons, this variant has been classified as Pathogenic.
Child Health and Human Development Program,Research Institute of the McGill University Health Center RCV000412334 SCV001424699 pathogenic Classic homocystinuria no assertion criteria provided clinical testing The c.676G>A (A226T) was identified in a patients of French Canadian origin in compound heterozygote with c.313C>G (L105V). Clinical characteristics included lens dislocation and elevated fasting homocysteine. Patient had no intellectual impairment and responds to treatment with vitamin B6.

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