ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)

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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 RCV002604958 SCV002962611 uncertain significance not provided 2022-04-18 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SPEG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2683 of the SPEG protein (p.Pro2683Ser).
Revvity Omics, Revvity RCV003492772 SCV004237641 uncertain significance Myopathy, centronuclear, 5 2023-11-08 criteria provided, single submitter clinical testing

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