ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)

dbSNP: rs753855245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254032 SCV001429931 likely pathogenic Cobalamin C disease 2020-06-05 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001254032 SCV002581445 uncertain significance Cobalamin C disease 2022-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001254032 SCV003487192 uncertain significance Cobalamin C disease 2023-12-21 criteria provided, single submitter clinical testing This variant, c.792_818del, results in the deletion of 9 amino acid(s) of the MMACHC protein (p.Ser264_Pro272del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753855245, gnomAD 0.003%). This variant has been observed in individual(s) with cobalamin C deficiency (PMID: 19370762). ClinVar contains an entry for this variant (Variation ID: 976664). 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.

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