ClinVar Miner

Submissions for variant NM_005378.6(MYCN):c.626dup (p.Ala210fs)

dbSNP: rs1558534266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003228894 SCV003926186 pathogenic not provided 2022-11-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 255 amino acids are replaced with 55 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18671284)
OMIM RCV000014911 SCV000035167 pathogenic Feingold syndrome type 1 2008-09-01 no assertion criteria provided literature only

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