ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)

gnomAD frequency: 0.00001  dbSNP: rs749599192
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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 RCV001313090 SCV001503568 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 76 of the ARL6 protein (p.Tyr76His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs749599192, ExAC 0.006%). This variant has not been reported in the literature in individuals with ARL6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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.
Fulgent Genetics, Fulgent Genetics RCV005023021 SCV005659818 uncertain significance Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-03-11 criteria provided, single submitter clinical testing

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