ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)

gnomAD frequency: 0.00001  dbSNP: rs755311537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692866 SCV000820712 uncertain significance Achondrogenesis, type IA 2021-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532226 SCV003733919 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1271T>G (p.I424S) alteration is located in exon 9 (coding exon 9) of the TRIP11 gene. This alteration results from a T to G substitution at nucleotide position 1271, causing the isoleucine (I) at amino acid position 424 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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