ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.805C>T (p.Arg269Cys)

gnomAD frequency: 0.00011  dbSNP: rs368109068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521414 SCV000620359 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing The R269C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 6/8356 (0.07%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). R269C is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000797605 SCV000937172 likely benign Immunodeficiency 35 2024-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258850 SCV003972871 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.805C>T (p.R269C) alteration is located in exon 7 (coding exon 5) of the TYK2 gene. This alteration results from a C to T substitution at nucleotide position 805, causing the arginine (R) at amino acid position 269 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000521414 SCV005192569 uncertain significance not provided criteria provided, single submitter not provided

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