ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.396_399del (p.Asn133fs)

dbSNP: rs760088776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199120 SCV001370115 uncertain significance Singleton-Merten syndrome 2 2019-07-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859207 SCV002163378 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DDX58-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 932023). This variant is present in population databases (rs760088776, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Asn133Argfs*15) in the DDX58 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DDX58 cause disease.

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