ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)

gnomAD frequency: 0.00058  dbSNP: rs61742059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488927 SCV000577492 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing The A1963T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1963T variant is observed in 29/10386 (0.28%) alleles in the ExAC dataset (Lek et al., 2016). The A1963T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Alanine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV002063835 SCV002324760 likely benign Achondrogenesis, type IA 2023-12-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488927 SCV004565152 likely benign not provided 2023-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023259 SCV004971613 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.5887G>A (p.A1963T) alteration is located in exon 21 (coding exon 21) of the TRIP11 gene. This alteration results from a G to A substitution at nucleotide position 5887, causing the alanine (A) at amino acid position 1963 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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