ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.232del (p.Tyr78fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306839 SCV002603930 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2022-04-04 criteria provided, single submitter clinical testing NM_013339.3(ALG6):c.232delT(Y78Ifs*13) is expected to be pathogenic in the context of congenital disorder of glycosylation type Ic. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ALG6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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