ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)

gnomAD frequency: 0.00019  dbSNP: rs200739251
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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 RCV000312673 SCV000389572 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000312673 SCV002324839 benign Achondrogenesis, type IA 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165849 SCV003864376 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.3100C>T (p.L1034F) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a C to T substitution at nucleotide position 3100, causing the leucine (L) at amino acid position 1034 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003930349 SCV004741588 likely benign TRIP11-related disorder 2023-06-27 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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