ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.981dup (p.Lys328Ter)

dbSNP: rs756816369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002702901 SCV003564808 likely pathogenic Inborn genetic diseases 2021-05-01 criteria provided, single submitter clinical testing The c.981dupT (p.K328*) alteration, located in exon 4 (coding exon 3) of the PUS3 gene, consists of a duplication of T at position 981, causing a translational frameshift with a predicted alternate stop codon after amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as likely pathogenic.

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