ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) (rs143023066)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757497 SCV000885746 likely pathogenic not provided 2018-06-19 criteria provided, single submitter clinical testing The MUT c.1889G>C; p.Gly630Ala variant, to our knowledge, is not described in the medical literature or gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 630 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Additionally, another variant at this codon (c.1889G>A; p.Gly630Glu) has been reported in the homozygous and compound heterozygous state in individuals affected with methylmalonic academia (Crane 1994, Lempp 2006, Worgan 2006). Based on available information, this variant is considered likely pathogenic. Pathogenic MUT variants are inherited in an autosomal recessive manner and are associated with methylmalonic aciduria, mut(0) type (MIM: 251000). References: Crane AM et al. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. Am J Hum Genet. 1994 Jul;55(1):42-50. Lempp TJ et al. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Mol Genet Metab. 2007 Mar;90(3):284-90. Epub 2006 Nov 20. Worgan LC et al. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat. 2006 Jan;27(1):31-43.

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