ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

dbSNP: rs104893680
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001723532 SCV001950208 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Thr31Met variant in ARL6 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM1, PS3, PP1, PM3-P. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851573 SCV002245524 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 31 of the ARL6 protein (p.Thr31Met). This variant is present in population databases (rs104893680, gnomAD 0.006%). This missense change has been observed in individual(s) with Bardet Biedl syndrome (PMID: 15314642, 22410627). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2042). 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. Experimental studies have shown that this missense change affects ARL6 function (PMID: 19236846). This variant disrupts the p.Thr31 amino acid residue in ARL6. Other variant(s) that disrupt this residue have been determined to be pathogenic (internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003133114 SCV003815622 pathogenic not provided 2021-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031381 SCV005659811 pathogenic Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-02-18 criteria provided, single submitter clinical testing
OMIM RCV000002123 SCV000022281 pathogenic Bardet-Biedl syndrome 3 2004-09-01 no assertion criteria provided literature only

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