ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.799dup (p.Arg267fs)

dbSNP: rs1553163005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673433 SCV000798634 uncertain significance Cobalamin C disease 2018-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673433 SCV001527837 uncertain significance Cobalamin C disease 2018-04-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001771922 SCV001992398 uncertain significance not provided 2021-01-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 16 amino acids are lost and replaced with 42 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000673433 SCV004178234 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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