ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)

gnomAD frequency: 0.00001  dbSNP: rs104893679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512668 SCV003023658 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 169 of the ARL6 protein (p.Gly169Ala). This variant is present in population databases (rs104893679, gnomAD 0.0009%). 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. This variant is also known as 859G>C G169A. ClinVar contains an entry for this variant (Variation ID: 2041). 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.
OMIM RCV000002121 SCV000022279 pathogenic Bardet-Biedl syndrome 3 2004-09-01 no assertion criteria provided literature only
OMIM RCV000002122 SCV000022280 risk factor Bardet-Biedl syndrome 1, modifier of 2004-09-01 no assertion criteria provided literature only

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