ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) (rs754733253)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000358688 SCV000341394 likely benign not specified 2016-04-18 criteria provided, single submitter clinical testing
Counsyl RCV000415194 SCV000794526 uncertain significance Deficiency of alpha-mannosidase 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV000415194 SCV001051716 likely benign Deficiency of alpha-mannosidase 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415194 SCV000328771 uncertain significance Deficiency of alpha-mannosidase 2014-10-03 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SCN8A (NM_014191.3, c.647T>G) and MAN2B1 (NM_000528.3, c.2782G>C and c.1383C>G in trans) in one individual with reported features that include delayed motor milestones, delayed speech, intellectual disability, hypotonia, seizure disorder (refractory epilepsy), abnormal movements (dyskinesia), minor dysmorphic features (flat nasal bridge, prominent eyes, full lips), microcephaly, dysphagia, and cortical visual impairment. Heterozygotes for the MAN2B1 variants would be expected to be asymptomatic carriers.

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