ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe)

dbSNP: rs1595387309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002035209 SCV002109796 uncertain significance Achondrogenesis, type IA 2022-07-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1349457). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1207 of the TRIP11 protein (p.Leu1207Phe).

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