ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)

dbSNP: rs755895621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000768345 SCV001524012 uncertain significance Trichohepatoenteric syndrome 1 2020-02-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001392453 SCV001594096 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001392453 SCV003924178 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing TTC37 NM_014639.3 exon 40 p.Ser1437Ile (c.4310G>T): This variant has not been reported in the literature but is present in 0.2% (60/3778) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs755895621). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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