ClinVar Miner

Submissions for variant NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)

gnomAD frequency: 0.00001  dbSNP: rs750896617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000239542 SCV004809420 likely pathogenic Xanthinuria type II 2024-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000239542 SCV005651998 likely pathogenic Xanthinuria type II 2024-01-25 criteria provided, single submitter clinical testing
OMIM RCV000239542 SCV000297961 pathogenic Xanthinuria type II 2016-07-27 no assertion criteria provided literature only
Gene Friend Way, National Innovation Center RCV003313948 SCV004013901 pathogenic Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing Missense mutation in gene that has been shown to be linked to type II classical xanthinuria (PMID 17368066). Impaired expression of the MOCOS gene unit have been seen in ASD patient stem cells (PMID: 32327736). MOCOS polymorphism is associated with increased risk of autism spectrum disorder (PMID: 31900757). Altered MOCOS expression lead to abnormal neurodevelopment and neurotransmission, which associated with ASD (PMID: 26239292). In our study, two children diagnosed with autism spectrum disorder are carriers of this mutation.

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