ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4217G>C (p.Arg1406Pro)

dbSNP: rs758132889
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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 RCV001369331 SCV001565767 uncertain significance Werner syndrome 2020-05-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1406 of the WRN protein (p.Arg1406Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WRN-related conditions. 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: Benign; Align-GVGD: Not Available). 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 RCV004037075 SCV004979945 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.4217G>C (p.R1406P) alteration is located in exon 35 (coding exon 34) of the WRN gene. This alteration results from a G to C substitution at nucleotide position 4217, causing the arginine (R) at amino acid position 1406 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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