ClinVar Miner

Submissions for variant NM_001164586.2(IGFN1):c.1412C>A (p.Ser471Tyr)

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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 RCV004251930 SCV003869642 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.1412C>A (p.S471Y) alteration is located in exon 12 (coding exon 11) of the IGFN1 gene. This alteration results from a C to A substitution at nucleotide position 1412, causing the serine (S) at amino acid position 471 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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