ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)

dbSNP: rs1643682280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212480 SCV001384063 pathogenic Cobalamin C disease 2021-12-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMACHC protein in which other variant(s) (p.Asp207Glyfs*38, p.Trp203*, p.Tyr205*) have been determined to be pathogenic (PMID: 16311595, 20631720, 23954310, 25388550, 25772322, 26270766). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 942483). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp202Leufs*42) in the MMACHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acid(s) of the MMACHC protein.

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