ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)

gnomAD frequency: 0.00001  dbSNP: rs104893680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063683 SCV001228542 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 31 of the ARL6 protein (p.Thr31Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 15314642). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2044). 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). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814795 SCV005071178 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005024989 SCV005659810 likely pathogenic Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-05-28 criteria provided, single submitter clinical testing
OMIM RCV000002125 SCV000022283 pathogenic Bardet-Biedl syndrome 3 2004-09-01 no assertion criteria provided literature only

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