ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.434C>T (p.Pro145Leu) (rs121964963)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625555 SCV000930439 likely pathogenic Classic homocystinuria 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000625555 SCV001393783 pathogenic Classic homocystinuria 2019-06-29 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 145 of the CBS protein (p.Pro145Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with homocystinuria (PMID: 24211323, 8353501, 16479318, 25218699). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 118). This variant has been reported to affect CBS protein function (PMID: 8353501, 22267502). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV001250193 SCV001424384 likely pathogenic Homocystinuria criteria provided, single submitter clinical testing
OMIM RCV000000139 SCV000020282 pathogenic Homocystinuria, pyridoxine-responsive 1993-06-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625555 SCV000746051 pathogenic Classic homocystinuria 2017-09-18 no assertion criteria provided clinical testing

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