ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2296C>G (p.Pro766Ala)

gnomAD frequency: 0.00001  dbSNP: rs781541304
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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 RCV001057637 SCV001222140 uncertain significance Werner syndrome 2022-09-03 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 766 of the WRN protein (p.Pro766Ala). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 852921). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs781541304, gnomAD 0.007%).
Baylor Genetics RCV001057637 SCV001482874 uncertain significance Werner syndrome 2020-08-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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