ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1498G>A (p.Ala500Thr)

gnomAD frequency: 0.00002  dbSNP: rs775333857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367299 SCV001563645 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284278 SCV003967935 uncertain significance Inborn genetic diseases 2023-04-10 criteria provided, single submitter clinical testing The c.1498G>A (p.A500T) alteration is located in exon 7 (coding exon 7) of the IFIH1 gene. This alteration results from a G to A substitution at nucleotide position 1498, causing the alanine (A) at amino acid position 500 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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