ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.3029T>G (p.Phe1010Cys)

dbSNP: rs2151707871
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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 RCV002888698 SCV003647229 uncertain significance Inborn genetic diseases 2022-11-03 criteria provided, single submitter clinical testing The c.3029T>G (p.F1010C) alteration is located in exon 16 (coding exon 16) of the IGF1R gene. This alteration results from a T to G substitution at nucleotide position 3029, causing the phenylalanine (F) at amino acid position 1010 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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