ClinVar Miner

Submissions for variant NC_000009.12:g.27536399C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Friend Way, National Innovation Center RCV003314487 SCV004013888 uncertain significance Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing rs2814707 associated with ALS risk. ALS is a neurodegenerative disorder that can lead to fatal paralysis (PMID 20801717). In our study, 23 out of 250 children diagnosed with autism spectrum disorder are also heterozygotes for rs2814707. However, the frequency of this T allele is also very high in the Vietnamese population (around 10% in our studies). Therefore, this variant is classified as VUS.

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