ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.495G>A (p.Leu165=)

gnomAD frequency: 0.00003  dbSNP: rs761111018
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607234 SCV000714905 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000952225 SCV001098710 benign Cobalamin C disease 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101236 SCV001257830 likely benign Disorders of Intracellular Cobalamin Metabolism 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV000952225 SCV002808458 likely benign Cobalamin C disease 2021-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000952225 SCV004178187 benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000952225 SCV002089542 likely benign Cobalamin C disease 2019-06-19 no assertion criteria provided clinical testing

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