ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.255A>G (p.Lys85=)

dbSNP: rs779384199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002664273 SCV003524866 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-08-21 criteria provided, single submitter clinical testing This sequence change affects codon 85 of the ARL6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ARL6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs779384199, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ARL6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV004747232 SCV005366748 likely benign ARL6-related disorder 2019-09-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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