ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)

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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. RCV002307224 SCV002604695 likely pathogenic Deficiency of alpha-mannosidase 2021-12-09 criteria provided, single submitter clinical testing NM_000528.3(MAN2B1):c.2445_2447delAAGinsT(R816Afs*114) is expected to be pathogenic in the context of alpha-mannosidosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MAN2B1, 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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