ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)

dbSNP: rs121964967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003495103 SCV004283189 likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 384 of the CBS protein (p.Lys384Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with homocystinuria (PMID: 8990018). ClinVar contains an entry for this variant (Variation ID: 123). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CBS protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000000145 SCV000020288 pathogenic Homocystinuria, pyridoxine-responsive 1997-01-01 no assertion criteria provided literature only

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