ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)

gnomAD frequency: 0.00052  dbSNP: rs143754727
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000858536 SCV000241209 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364005 SCV000403686 uncertain significance Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000364005 SCV001725851 benign Progressive myoclonic epilepsy 2022-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390493 SCV002700887 likely benign Inborn genetic diseases 2019-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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