ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr)

gnomAD frequency: 0.00008  dbSNP: rs371478900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336001 SCV001529271 uncertain significance Acromelic frontonasal dysostosis 2018-03-02 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 RCV001871880 SCV002216804 uncertain significance not provided 2023-08-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1033558). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 664 of the ZSWIM6 protein (p.Met664Thr). This variant is present in population databases (rs371478900, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ZSWIM6-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 ZSWIM6 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.
Revvity Omics, Revvity RCV001871880 SCV003821882 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing

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