ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.599C>T (p.Pro200Leu) (rs758712880)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796081 SCV000935576 uncertain significance Classic homocystinuria 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 200 of the CBS protein (p.Pro200Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs758712880, ExAC 0.006%). This variant has been observed in an individual affected with homocystinuria; however, a second variant was not identified in this individual (PMID: 21520339). A single experimental study showed that this missense variant mildly decreased CBS activity, but the clinical relevance of this observation remains unknown (PMID: 21520339). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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