ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.393G>C (p.Glu131Asp) (rs1555875351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534364 SCV000649835 uncertain significance Classic homocystinuria 2017-07-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 131 of the CBS protein (p.Glu131Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state in one individual with homocystinuria (PMID: 7849717), however, that individual also carried a pathogenic CBS variants on the same chromosome p.Arg125Gln and a silent change at p.145. Experimental studies have shown that this missense change results in  loss of enzymatic CBS activity (PMID: 7849717, 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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