ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3850C>T (p.Leu1284Phe)

gnomAD frequency: 0.00003  dbSNP: rs368876038
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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 RCV000693717 SCV000821598 uncertain significance Werner syndrome 2023-08-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 572355). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs368876038, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1284 of the WRN protein (p.Leu1284Phe). 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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