ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.308G>T (p.Arg103Ile)

dbSNP: rs1025041382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233772 SCV001406382 uncertain significance Joubert syndrome 8 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARL13B-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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARL13B protein function. ClinVar contains an entry for this variant (Variation ID: 960272). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 103 of the ARL13B protein (p.Arg103Ile).

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