ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter)

gnomAD frequency: 0.00001  dbSNP: rs373689624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727306 SCV001961858 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001727306 SCV003525631 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1298976). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder (PMID: 26185613). This variant is present in population databases (rs373689624, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg4270*) in the FAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAT1 are known to be pathogenic (PMID: 30862798).

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