ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.284T>C (p.Ile95Thr) (rs1347662650)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557426 SCV000649831 pathogenic Classic homocystinuria 2019-06-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 95 of the CBS protein (p.Ile95Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with homocystinuria in a family (Invitae) and has been observed to be homozygous in an individual affected with homocystinuria (PMID: 29352562). ClinVar contains an entry for this variant (Variation ID: 471361). This variant has been reported to affect CBS protein function (PMID: 29352562). For these reasons, this variant has been classified as Pathogenic.

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