ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.500_501del (p.Pro167fs)

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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. RCV002308377 SCV002602072 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 2022-03-15 criteria provided, single submitter clinical testing NM_000404.2(GLB1):c.500_501delCC(P167Qfs*19) is expected to be pathogenic in the context of GLB1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GLB1, 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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