ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) (rs386834010)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250383 SCV000312923 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000049988 SCV000789433 uncertain significance Muscle eye brain disease 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV001045717 SCV001209588 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 265 of the POMGNT1 protein (p.Arg265His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs386834010, ExAC 0.007%). This variant has been observed in several individuals affected with muscle-eye-brain (MEB) disease and was observed to segregate with MEB in a family. In at least one individual this variant was observed in cis with p.Arg311Gln and in trans with a different POMGNT1 variant (PMID: 15236414, 17559086, 22522420, 20215985). ClinVar contains an entry for this variant (Variation ID: 56575). This variant has been reported to affect POMGNT1 protein function (PMID: 21361872, 24733390). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049988 SCV000082397 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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