ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)

gnomAD frequency: 0.00007  dbSNP: rs745487097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067279 SCV001232332 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438658 SCV004147076 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629441 SCV005123648 uncertain significance Inborn genetic diseases 2024-04-26 criteria provided, single submitter clinical testing The c.2642T>C (p.I881T) alteration is located in exon 14 (coding exon 14) of the IFIH1 gene. This alteration results from a T to C substitution at nucleotide position 2642, causing the isoleucine (I) at amino acid position 881 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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