ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3334T>C (p.Tyr1112His)

gnomAD frequency: 0.00001  dbSNP: rs1213099634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057051 SCV001221525 uncertain significance Werner syndrome 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1112 of the WRN protein (p.Tyr1112His). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: 852444). 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792692 SCV005409432 uncertain significance not provided 2024-06-06 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV004963063 SCV005533735 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.3334T>C (p.Y1112H) alteration is located in exon 28 (coding exon 27) of the WRN gene. This alteration results from a T to C substitution at nucleotide position 3334, causing the tyrosine (Y) at amino acid position 1112 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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