ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)

dbSNP: rs1060501480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460163 SCV000546453 pathogenic Hypertrophic cardiomyopathy 2016-09-26 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 33 of the MYBPC3 mRNA (c.3665delG), causing a frameshift at codon 1222. This creates a premature translational stop signal (p.Gly1222Glufs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MYBPC3 are known to be pathogenic ( PMID: 19574547)). For these reasons, this variant has been classified as Pathogenic.

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