ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)

dbSNP: rs923064561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700416 SCV000829170 likely pathogenic Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2018-07-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in an individual with a phenotype consistent with Singleton-Merten syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 329 of the IFIH1 protein (p.Leu329Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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