ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)

gnomAD frequency: 0.00845  dbSNP: rs113794264
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249391 SCV000314971 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320027 SCV000452390 uncertain significance MEGF10-related myopathy 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, 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.
GeneDx RCV000249391 SCV000522706 benign not specified 2016-02-29 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 RCV000320027 SCV000651958 benign MEGF10-related myopathy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000249391 SCV001476543 benign not specified 2019-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249391 SCV002066287 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262904 SCV002544975 benign not provided 2023-10-01 criteria provided, single submitter clinical testing MEGF10: BP4, BP7, BS1, BS2

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