ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.1A>G (p.Met1Val)

dbSNP: rs2107977736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987743 SCV002222735 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ARL6 protein in which other variant(s) (p.Thr31Arg) have been determined to be pathogenic (PMID: 15314642, 19236846). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1446585). This variant has not been reported in the literature in individuals affected with ARL6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ARL6 mRNA. The next in-frame methionine is located at codon 70.

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