ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)

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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. RCV002308242 SCV002601936 likely pathogenic GNPTG-mucolipidosis 2022-03-14 criteria provided, single submitter clinical testing NM_032520.4(GNPTG):c.599_600insG(I200Mfs*7) is expected to be pathogenic in the context of mucolipidosis III gamma. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GNPTG, 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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