ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)

gnomAD frequency: 0.00093  dbSNP: rs138304419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550030 SCV001770298 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001550030 SCV002048199 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing The TRIP11 c.1589G>A; p.Ser530Asn variant (rs138304419), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an allele frequency of .29% (73/24840 alleles) in the Genome Aggregation Database. The serine at codon 530 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.046). However, given the lack of clinical and functional data, the significance of the p.Ser530Asn variant is uncertain at this time.
Invitae RCV002072031 SCV002443428 likely benign Achondrogenesis, type IA 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948582 SCV004760454 likely benign TRIP11-related disorder 2022-02-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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