ClinVar Miner

Submissions for variant NM_001025295.3(IFITM5):c.376T>G (p.Phe126Val)

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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 RCV002585812 SCV002936447 likely benign not provided 2022-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375627 SCV004062196 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.376T>G (p.F126V) alteration is located in exon 2 (coding exon 2) of the IFITM5 gene. This alteration results from a T to G substitution at nucleotide position 376, causing the phenylalanine (F) at amino acid position 126 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002585812 SCV005412257 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing PM2

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