ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2640_2642del (p.Ile881del)

dbSNP: rs797044443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000015349 SCV002309489 uncertain significance Methylcobalamin deficiency type cblG 2022-09-06 criteria provided, single submitter clinical testing This variant, c.2640_2642del, results in the deletion of 1 amino acid(s) of the MTR protein (p.Ile881del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765481871, gnomAD 0.004%). This variant has been observed in individual(s) with homocystinuria, cblG type (PMID: 8968736). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 14279). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002482871 SCV002786402 uncertain significance Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 2021-07-06 criteria provided, single submitter clinical testing
OMIM RCV000015349 SCV000035608 pathogenic Methylcobalamin deficiency type cblG 1996-12-01 no assertion criteria provided literature only

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