ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.324del (p.Lys109fs)

dbSNP: rs1189298981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998353 SCV001154366 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV001066391 SCV001231398 pathogenic Methylcobalamin deficiency type cblE 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys109Argfs*2) in the MTRR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. ClinVar contains an entry for this variant (Variation ID: 809730). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461302 SCV004198771 likely pathogenic Neural tube defects, folate-sensitive 2023-03-29 criteria provided, single submitter clinical testing

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