ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.370G>A (p.Val124Ile)

gnomAD frequency: 0.00003  dbSNP: rs573706523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065171 SCV001230120 uncertain significance Methylmalonic aciduria, cblB type 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 124 of the MMAB protein (p.Val124Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs573706523, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001065171 SCV001455427 uncertain significance Methylmalonic aciduria, cblB type 2020-02-13 no assertion criteria provided clinical testing

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