ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1833G>A (p.Met611Ile)

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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 RCV003506689 SCV004369681 uncertain significance Werner syndrome 2023-01-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WRN-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs766281234, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 611 of the WRN protein (p.Met611Ile).
Ambry Genetics RCV004369313 SCV004978418 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.1833G>A (p.M611I) alteration is located in exon 16 (coding exon 15) of the WRN gene. This alteration results from a G to A substitution at nucleotide position 1833, causing the methionine (M) at amino acid position 611 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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