ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.608T>A (p.Phe203Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1307793327
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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 RCV001237108 SCV001409859 uncertain significance Werner syndrome 2022-04-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 203 of the WRN protein (p.Phe203Tyr). This variant is present in population databases (no rsID available, 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: 963125). 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 tyrosine 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.
Ambry Genetics RCV004033331 SCV004979948 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.608T>A (p.F203Y) alteration is located in exon 6 (coding exon 5) of the WRN gene. This alteration results from a T to A substitution at nucleotide position 608, causing the phenylalanine (F) at amino acid position 203 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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