ClinVar Miner

Submissions for variant NM_003680.4(YARS1):c.591+6T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818976 SCV005438998 uncertain significance Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 2023-07-22 criteria provided, single submitter clinical testing The observed splice region / intron variant c.591+6T>A in YARS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with 0.003% allele frequency in gnomAD Exomes. This variant is predicted to be Benign by SpliceAI Prediction. For these reasons, this variant has been classified as Uncertain Significance.

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