ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser)

gnomAD frequency: 0.00001  dbSNP: rs538624288
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533860 SCV000646958 uncertain significance Joubert syndrome 8 2022-11-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 469567). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ARL13B protein function. This variant has not been reported in the literature in individuals affected with ARL13B-related conditions. This variant is present in population databases (rs538624288, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 259 of the ARL13B protein (p.Pro259Ser).

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