ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.580C>T (p.Leu194Phe)

gnomAD frequency: 0.00002  dbSNP: rs373574074
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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 RCV001227196 SCV001399542 uncertain significance Immunodeficiency 35 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563108 SCV003742128 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.580C>T (p.L194F) alteration is located in exon 6 (coding exon 4) of the TYK2 gene. This alteration results from a C to T substitution at nucleotide position 580, causing the leucine (L) at amino acid position 194 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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