ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.277A>T (p.Ile93Phe)

gnomAD frequency: 0.00002  dbSNP: rs1434718123
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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 RCV001323474 SCV001514392 uncertain significance Immunodeficiency 35 2020-01-10 criteria provided, single submitter clinical testing 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 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"). This variant has not been reported in the literature in individuals with TYK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 93 of the TYK2 protein (p.Ile93Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine.
Ambry Genetics RCV003166889 SCV003866772 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.277A>T (p.I93F) alteration is located in exon 4 (coding exon 2) of the TYK2 gene. This alteration results from a A to T substitution at nucleotide position 277, causing the isoleucine (I) at amino acid position 93 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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