ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.602G>A (p.Arg201His)

gnomAD frequency: 0.00011  dbSNP: rs140799151
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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 RCV002024694 SCV002317397 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046963 SCV003715942 uncertain significance not specified 2022-05-31 criteria provided, single submitter clinical testing The c.602G>A (p.R201H) alteration is located in exon 3 (coding exon 3) of the OAS1 gene. This alteration results from a G to A substitution at nucleotide position 602, causing the arginine (R) at amino acid position 201 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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