ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.309dup (p.Leu104fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002702871 SCV003564719 pathogenic Inborn genetic diseases 2021-04-03 criteria provided, single submitter clinical testing The c.309dupA (p.L104Tfs*20) alteration, located in exon 3 (coding exon 3) of the ALG8 gene, consists of a duplication of A at position 309, causing a translational frameshift with a predicted alternate stop codon after 20 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 pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005011112 SCV005631827 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2024-06-07 criteria provided, single submitter clinical testing

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