ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.302T>C (p.Leu101Pro) (rs786204757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169617 SCV000221143 likely pathogenic Homocystinuria due to CBS deficiency 2015-02-18 criteria provided, single submitter literature only
Invitae RCV000169617 SCV000826966 pathogenic Homocystinuria due to CBS deficiency 2017-08-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 101 of the CBS protein (p.Leu101Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous or compound-heterozygous state in several individuals and families affected with cystathionine β-synthase (CBS) deficiency (PMID: 9889017, 12124992, 14635102). ClinVar contains an entry for this variant (Variation ID: 189185). Experimental studies in yeast and E. coli have shown that this missense change results in complete loss of enzymatic activity (PMID: 22267502, 20066033, 14635102, 12124992). For these reasons, this variant has been classified as Pathogenic.

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