ClinVar Miner

Submissions for variant NM_001555.5(IGSF1):c.404_482delinsTCAGGCTGAGACCCCCGCTCTTCCTGGGTGTAATGTTAACATCCTCTGC (p.Trp135_Phe161delinsPheArgLeuArgProProLeuPheLeuGlyValMetLeuThrSerSerAla)

dbSNP: rs2124131728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001800141 SCV002044270 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 27 amino acids and insertion of 17 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002544379 SCV003558986 uncertain significance Inborn genetic diseases 2021-05-03 criteria provided, single submitter clinical testing The c.404_482del79insTCAGGCTGAGACCCCCGCTCTTCCTGGGTGTAATGTTAACATCCTCTGC (p.W135_F161delinsFRLRPPLFLGVMLTSSA) alteration, located in exon 5 (coding exon 4) of the IGSF1 gene, consists of an in-frame deletion of 79 and insertion of 49 nucleotides from position 404 to 482, resulting in the insertion of 26 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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