Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001208535 | SCV001379928 | uncertain significance | Joubert syndrome 8 | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 357 of the ARL13B protein (p.His357Arg). This variant is present in population databases (rs150821066, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ARL13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 939183). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002561690 | SCV003722473 | uncertain significance | Inborn genetic diseases | 2022-01-10 | criteria provided, single submitter | clinical testing | The c.1070A>G (p.H357R) alteration is located in exon 8 (coding exon 8) of the ARL13B gene. This alteration results from a A to G substitution at nucleotide position 1070, causing the histidine (H) at amino acid position 357 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |