ClinVar Miner

Submissions for variant NM_001164586.2(IGFN1):c.2281C>T (p.Arg761Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004194427 SCV003688439 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing The c.2281C>T (p.R761W) alteration is located in exon 12 (coding exon 11) of the IGFN1 gene. This alteration results from a C to T substitution at nucleotide position 2281, causing the arginine (R) at amino acid position 761 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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