ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)

dbSNP: rs483352740
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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 RCV001229076 SCV001401508 uncertain significance Cobalamin C disease 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 217 of the MMACHC protein (p.Glu217Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 956301). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Baylor Genetics RCV001229076 SCV001522714 uncertain significance Cobalamin C disease 2019-04-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001229076 SCV004178219 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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