ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)

gnomAD frequency: 0.00004  dbSNP: rs201607866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000893258 SCV000389562 likely benign Achondrogenesis, type IA 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508397 SCV000605438 likely benign not specified 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV000893258 SCV001037178 benign Achondrogenesis, type IA 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278760 SCV003960281 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.4159G>A (p.E1387K) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a G to A substitution at nucleotide position 4159, causing the glutamic acid (E) at amino acid position 1387 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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