ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.12060C>T (p.Gly4020=) (rs144476127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599570 SCV000710058 uncertain significance not provided 2018-10-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The c.12060 C>T varianthas not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.12060 C>T variant is observed in 32/24034 (0.13%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.12060 C>T creates a weaker cryptic donor site which may lead to abnormal gene splicing. However, in the absence of functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000599570 SCV001080685 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing

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