ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala)

dbSNP: rs747427574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373249 SCV001569954 uncertain significance Myoclonic dystonia 11 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 399 of the SGCE protein (p.Pro399Ala). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1063416). This variant has not been reported in the literature in individuals affected with SGCE-related conditions.

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