ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)

dbSNP: rs786205885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478920 SCV000568770 pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing The c.1083_1084dupCT pathogenic variant has been reported in multiple unrelated individuals with congenital myasthenia syndromes and in each report was observed in the heterozygous state along with the N88K pathogenic variant (Richard et al., 2003; Ioos et al., 2004; Das et al., 2014). This variant causes a frameshift starting with codon Tyrosine 362, changes this amino acid to a Serine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Tyr362SerfsX10. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1083_1084dupCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1083_1084dupCT as a pathogenic variant.
OMIM RCV000170473 SCV000222901 pathogenic Congenital myasthenic syndrome 11 2014-11-01 no assertion criteria provided literature only
Natera, Inc. RCV001826868 SCV002087296 pathogenic Congenital myasthenic syndrome 2021-05-14 no assertion criteria provided clinical testing

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