ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2521G>A (p.Ala841Thr)

gnomAD frequency: 0.00006  dbSNP: rs748169173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176165 SCV000227778 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000225916 SCV000285539 uncertain significance Werner syndrome 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 841 of the WRN protein (p.Ala841Thr). This variant is present in population databases (rs748169173, gnomAD 0.02%). 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: 195567). 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. 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 RCV002516701 SCV003700979 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.2521G>A (p.A841T) alteration is located in exon 21 (coding exon 20) of the WRN gene. This alteration results from a G to A substitution at nucleotide position 2521, causing the alanine (A) at amino acid position 841 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000176165 SCV005195871 uncertain significance not provided criteria provided, single submitter not provided

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