ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser)

gnomAD frequency: 0.00039  dbSNP: rs143227096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951215 SCV001097592 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002066276 SCV002496017 uncertain significance Trichohepatoenteric syndrome 1 2021-12-03 criteria provided, single submitter clinical testing TTC37 NM_014639.3 exon 40 p.Ala1450Ser (c.4348G>T): This variant has not been reported in the literature but is present in 0.1% (52/41446) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/5-95478307-C-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:771827). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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