ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.415C>T (p.Leu139Phe)

gnomAD frequency: 0.00023  dbSNP: rs142314177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339244 SCV001532974 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035889 SCV003701835 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.415C>T (p.L139F) alteration is located in exon 2 (coding exon 2) of the OAS1 gene. This alteration results from a C to T substitution at nucleotide position 415, causing the leucine (L) at amino acid position 139 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Johns Hopkins Genomics, Johns Hopkins University RCV003150826 SCV003839076 uncertain significance Pulmonary alveolar proteinosis with hypogammaglobulinemia 2023-01-18 criteria provided, single submitter clinical testing This OAS1 missense variant (rs142314177) is rare (<0.1%) in a large population dataset (gnomAD v3.1.2: 32/152216 total alleles; 0.02%; no homozygotes). The variant has been reported in ClinVar (Variation ID 1036262), but not in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, but these algorithms have low specificity, especially for predicting gain of function. The leucine residue at this position is evolutionarily conserved across very few of the species assessed, and two of the species assessed have phenylalanine at this position. We consider the clinical significance of c.415C>T; p.Leu139Phe in OAS1 to be uncertain at this time.

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