ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly)

gnomAD frequency: 0.00001  dbSNP: rs777628142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005513177 SCV006180823 uncertain significance Inborn genetic diseases 2025-04-24 criteria provided, single submitter clinical testing The c.4073A>G (p.E1358G) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 4073, causing the glutamic acid (E) at amino acid position 1358 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001959796 SCV002216467 uncertain significance Achondrogenesis, type IA 2021-09-24 criteria provided, single submitter clinical testing

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