ClinVar Miner

Submissions for variant NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys)

gnomAD frequency: 0.00005  dbSNP: rs562486549
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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 RCV001035179 SCV001198494 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 835 of the ADGRA3 protein (p.Ser835Cys). This variant is present in population databases (rs562486549, gnomAD 0.03%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 23105016, 26355662). ClinVar contains an entry for this variant (Variation ID: 834484). 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. 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.
Faculty of Health Sciences, Beirut Arab University RCV001257836 SCV001434699 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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