ClinVar Miner

Submissions for variant NM_001164586.2(IGFN1):c.3881C>T (p.Ala1294Val)

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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 RCV004202688 SCV003705827 uncertain significance not specified 2024-11-23 criteria provided, single submitter clinical testing The c.3881C>T (p.A1294V) 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 3881, causing the alanine (A) at amino acid position 1294 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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