ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.14660G>A (p.Arg4887Lys) (rs35845544)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513675 SCV000610648 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000521280 SCV000618215 uncertain significance not specified 2017-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The R4887K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant isobserved in 223/24016 (0.9%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016). The R4887K variant is a conservative amino acid substitution, which is not likely to impact secondaryprotein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the proteinstructure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000521280 SCV000706248 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing
Invitae RCV000513675 SCV001069344 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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