ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.243C>T (p.Cys81=)

gnomAD frequency: 0.00081  dbSNP: rs140411575
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124048 SCV000167457 benign not specified 2014-04-09 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.
CeGaT Center for Human Genetics Tuebingen RCV000513045 SCV000608667 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MTRFR: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001088353 SCV001002939 benign Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113855 SCV001271664 uncertain significance Combined oxidative phosphorylation defect type 7 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847743 SCV002106296 likely benign Hereditary spastic paraplegia 2019-12-01 criteria provided, single submitter clinical testing

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