ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) (rs1170128038)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801835 SCV000941632 pathogenic Classic homocystinuria 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 376 of the CBS protein (p.Asp376Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another CBS variant in individuals affected with homocystinuria (PMID: 29352562, 20567906). Experimental studies have shown that this missense change decreases CBS enzyme activity (PMID: 14635102, 22267502, 20066033). For these reasons, this variant has been classified as Pathogenic.

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