ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) (rs749758687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669558 SCV000794321 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV000669558 SCV001221775 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 193 of the MMAB protein (p.Glu193Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs749758687, ExAC 0.01%). This variant has been observed in individual(s) with methylmalonic aciduria (PMID: 12471062, 25760844). ClinVar contains an entry for this variant (Variation ID: 554009). This variant has been reported to affect MMAB protein function (PMID: 16439175). 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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