ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)

dbSNP: rs1553163024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666710 SCV000791053 uncertain significance Cobalamin C disease 2017-04-24 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000666710 SCV004176605 uncertain significance Cobalamin C disease 2023-03-01 criteria provided, single submitter clinical testing The frame shift c.848del (p.Ter283TyrfsTer8) variant in MMACHC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ter283TyrfsTer8 variant has allele frequency 0.0004% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as Uncertain Significance. Frame shift change, the sequence of a stop codon is changed to specify an amino acid Tyrosine instead and translation will continue until another stop codon is found at position Ter8. Loss of function variants have been previously reported to be disease causing. However, since this variant is present in the last exon, functional studies will be required to prove protein truncation to prove protein truncation. Hence for these reasons, this variant has been classified as uncertain significance (VUS).

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