ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1159G>A (p.Val387Met)

dbSNP: rs376669587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634171 SCV000755470 uncertain significance Achondrogenesis, type IA 2022-08-31 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: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 528891). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs376669587, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 387 of the TRIP11 protein (p.Val387Met). 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.
Ambry Genetics RCV002533189 SCV003606805 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1159G>A (p.V387M) alteration is located in exon 7 (coding exon 7) of the TRIP11 gene. This alteration results from a G to A substitution at nucleotide position 1159, causing the valine (V) at amino acid position 387 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003318610 SCV004023078 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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