ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe)

gnomAD frequency: 0.00001  dbSNP: rs751017848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345363 SCV001539474 uncertain significance Achondrogenesis, type IA 2020-09-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TRIP11-related conditions. This variant is present in population databases (rs751017848, ExAC 0.005%). This sequence change replaces serine with phenylalanine at codon 1144 of the TRIP11 protein (p.Ser1144Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.

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