ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)

gnomAD frequency: 0.00008  dbSNP: rs147691840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855722 SCV002182112 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 52 of the TRIOBP protein (p.Asp52Asn). This variant is present in population databases (rs147691840, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with deafness (PMID: 23967202, 28089734, 31178897). ClinVar contains an entry for this variant (Variation ID: 626273). 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: "Probably 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.
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768433 SCV000899191 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 no assertion criteria provided case-control

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