ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)

gnomAD frequency: 0.00001  dbSNP: rs760715690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352027 SCV000337166 pathogenic not provided 2015-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000352027 SCV001145945 pathogenic not provided 2018-10-12 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. Moderate co-segregation with disease. However, available data are from a single family and lack unaffected family members.
OMIM RCV000787308 SCV000926245 pathogenic Arthrogryposis multiplex congenita 3, myogenic type 2014-05-01 no assertion criteria provided literature only

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