ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1534G>A (p.Asp512Asn)

gnomAD frequency: 0.00001  dbSNP: rs1232681316
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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 RCV001223883 SCV001396051 uncertain significance Werner syndrome 2023-07-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 512 of the WRN protein (p.Asp512Asn). This variant is present in population databases (no rsID available, 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: 951883). 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 RCV003246772 SCV003944272 uncertain significance Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing The c.1534G>A (p.D512N) alteration is located in exon 12 (coding exon 11) of the WRN gene. This alteration results from a G to A substitution at nucleotide position 1534, causing the aspartic acid (D) at amino acid position 512 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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