ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys)

gnomAD frequency: 0.00008  dbSNP: rs748819463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616540 SCV000712284 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing The p.Tyr1222Cys variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 9/8514 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs748819463). Computational prediction tools and conservation analysis suggest that the p.Tyr1222Cys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Tyr1222Cys variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000616540 SCV000895155 uncertain significance not specified 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000861069 SCV001001283 likely benign Hypertrophic cardiomyopathy 2023-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456318 SCV002614019 uncertain significance Inborn genetic diseases 2023-07-17 criteria provided, single submitter clinical testing The p.Y1222C variant (also known as c.3665A>G), located in coding exon 23 of the MYOM1 gene, results from an A to G substitution at nucleotide position 3665. The tyrosine at codon 1222 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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