ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.913A>G (p.Thr305Ala)

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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 RCV002982191 SCV003288934 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654069 SCV005146032 uncertain significance not specified 2024-05-12 criteria provided, single submitter clinical testing The c.913A>G (p.T305A) alteration is located in exon 5 (coding exon 5) of the OAS1 gene. This alteration results from a A to G substitution at nucleotide position 913, causing the threonine (T) at amino acid position 305 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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