ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) (rs770077320)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000190395 SCV000789753 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000190395 SCV001420754 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2019-09-23 criteria provided, single submitter clinical testing This variant, c.37_54del, results in the deletion of 6 amino acid(s) of the MMAB protein (p.Gly13_Leu18del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MMAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 208198). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
Inserm U 954, Faculté de Médecine de Nancy RCV000190395 SCV000243931 not provided Vitamin B12-responsive methylmalonic acidemia type cblB no assertion provided not provided

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