ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.874C>A (p.Pro292Thr)

dbSNP: rs759603316
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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 RCV002530362 SCV003460445 uncertain significance not provided 2022-01-04 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. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 292 of the TWNK protein (p.Pro292Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of TWNK-related conditions (PMID: 29302074, 31823625). ClinVar contains an entry for this variant (Variation ID: 488187). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TWNK protein function.
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences RCV000677240 SCV000678252 pathogenic Perrault syndrome 5 no assertion criteria provided research

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