ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) (rs1322503729)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497309 SCV000589574 pathogenic not provided 2017-06-05 criteria provided, single submitter clinical testing The c.3348_3366dup19 variant in the IGF1R gene has been reported previously in association with severe short stature, small for gestational age for weight, and microcephaly which was noted in multiple individuals in one family (Fang et al., 2009). The c.3348_3366dup19 variant causes a frameshift starting with codon Methionine 1123, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Met1123ArgfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3348_3366dup19 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3348_3366dup19 as a pathogenic variant.
Ambry Genetics RCV000624750 SCV000741523 pathogenic Inborn genetic diseases 2017-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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