ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.1167dup (p.Gly390fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences RCV004799696 SCV005420952 pathogenic Citrullinemia 2022-03-04 no assertion criteria provided clinical testing The NM_054012 c.1167_1168insC, is a nonsense variant in ASS1 which is predicted to result in a premature stop codon at position 412, and likely results in an absent or disrupted protein product (PVS1). This mutation has been seen in compound heterozygosity with c.1186T>A.

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