ClinVar Miner

Submissions for variant NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del)

dbSNP: rs778398729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392211 SCV001593851 likely benign Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 2023-06-19 criteria provided, single submitter clinical testing
GeneDx RCV002225833 SCV002504531 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003416313 SCV004114972 uncertain significance FUS-related disorder 2022-12-16 criteria provided, single submitter clinical testing The FUS c.684_692del9 variant is predicted to result in an in-frame deletion (p.Gly229 Gly231del). This variant was reported in an individual with early-onset Alzheimer disease (Park et al. 2020. PubMed ID: 31217084). However, it is reported in 0.093% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-31196417-CGGCGGTGGT-C), which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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