ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)

gnomAD frequency: 0.00021  dbSNP: rs183191959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001429607 SCV001632324 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001429607 SCV001999460 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003399225 SCV004120249 uncertain significance FAT4-related condition 2023-04-04 criteria provided, single submitter clinical testing The FAT4 c.829G>A variant is predicted to result in the amino acid substitution p.Ala277Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-126238395-G-A). 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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