ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln)

gnomAD frequency: 0.00676  dbSNP: rs548415902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300329 SCV000332528 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000300329 SCV001937283 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000300329 SCV002122321 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 69 of the TPRN protein (p.Arg69Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TPRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 281645). 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: "Benign"; 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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