ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1462C>G (p.Pro488Ala)

gnomAD frequency: 0.00010  dbSNP: rs750338004
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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 RCV000948896 SCV001095123 likely benign Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546016 SCV003747248 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.1462C>G (p.P488A) alteration is located in exon 17 (coding exon 16) of the STAT2 gene. This alteration results from a C to G substitution at nucleotide position 1462, causing the proline (P) at amino acid position 488 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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