ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) (rs1555873407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648114 SCV000769925 uncertain significance Classic homocystinuria 2017-12-06 criteria provided, single submitter clinical testing This sequence change replaces Alanine with Threonine at codon 361 of the CBS protein (p.Ala361Thr). The Alanine residue is highly conserved and there is a moderate physicochemical difference between Alanine and Threonine. This variant is not present in population databases (ExAC no frequency). This specific variant has not been reported in individuals with CBS-related disease.  However, a different variant, c.1081G>A, that results in the same amino acid substitution p.Ala361Thr, has been reported in an individual with CBS deficiency (PMID: 11553052). Experimental studies in yeast have shown that the p.Ala361Thr results in a nonfunctional enzyme (PMID:22267502). 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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