ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser)

dbSNP: rs1851842282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332413 SCV001524738 uncertain significance Infantile onset spinocerebellar ataxia 2020-04-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546560 SCV003290027 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1030770). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 669 of the TWNK protein (p.Gly669Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TWNK-related conditions. 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 not expected to disrupt TWNK protein function. 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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