ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1242C>T (p.Asn414=)

gnomAD frequency: 0.00001  dbSNP: rs1173495538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810665 SCV001477624 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing The MYOT c.1242C>T; p.Asn414Asn variant to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site/weakening the nearby canonical site. Due to limited information, the clinical significance of the p.Asn414Asn variant is uncertain at this time.
Invitae RCV003770467 SCV004678605 likely benign Myofibrillar myopathy 3 2023-12-26 criteria provided, single submitter clinical testing

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