Submissions for variant NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)

gnomAD frequency: 0.00001  dbSNP: rs547709692

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001391331	SCV001019250	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000210836	SCV001321259	uncertain significance	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	RCV000210836	SCV000267125	pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	2012-10-04	no assertion criteria provided	research
Natera, Inc.	RCV001271801	SCV001453241	benign	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	2020-01-10	no assertion criteria provided	clinical testing