ClinVar Miner

Submissions for variant NM_004960.4(FUS):c.524-5C>T

gnomAD frequency: 0.01495  dbSNP: rs73530287
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368293 SCV000396633 benign Amyotrophic lateral sclerosis type 6 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081380 SCV000652436 benign Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711712 SCV000842099 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000711712 SCV001811220 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711712 SCV005215822 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972360 SCV004793607 benign FUS-related disorder 2024-01-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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