ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)

gnomAD frequency: 0.00001  dbSNP: rs137854907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058868 SCV000090388 likely pathogenic Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003764740 SCV004569658 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-09-19 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 24400638, 29806606). ClinVar contains an entry for this variant (Variation ID: 68064). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs137854907, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 91 of the ARL6 protein (p.Ile91Thr).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000058868 SCV005185362 pathogenic Bardet-Biedl syndrome 2024-05-08 criteria provided, single submitter clinical testing Variant summary: ARL6 c.272T>C (p.Ile91Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of three in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251078 control chromosomes. c.272T>C has been reported in the literature in multiple individuals affected with Bardet-Biedl Syndrome (example, Chandrasekar_2018, SathyaPriya_2015) . These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29806606, 24400638). ClinVar contains an entry for this variant (Variation ID: 68064). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005025110 SCV005659820 pathogenic Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-05-08 criteria provided, single submitter clinical testing

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