ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3091G>C (p.Val1031Leu)

gnomAD frequency: 0.00006  dbSNP: rs138492730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176534 SCV000228206 uncertain significance not provided 2015-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560597 SCV000629677 uncertain significance Werner syndrome 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1031 of the WRN protein (p.Val1031Leu). This variant is present in population databases (rs138492730, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 195860). 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 tolerated. 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.
Ambry Genetics RCV002516708 SCV003737670 uncertain significance Inborn genetic diseases 2022-08-12 criteria provided, single submitter clinical testing The c.3091G>C (p.V1031L) alteration is located in exon 25 (coding exon 24) of the WRN gene. This alteration results from a G to C substitution at nucleotide position 3091, causing the valine (V) at amino acid position 1031 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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