ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)

gnomAD frequency: 0.00023  dbSNP: rs372134073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393692 SCV000338973 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765637 SCV000896966 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000393692 SCV001823206 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000393692 SCV002184449 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 428 of the TRIOBP protein (p.Pro428Arg). This variant is present in population databases (rs372134073, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 285798). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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