ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly)

gnomAD frequency: 0.00176  dbSNP: rs188319622
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Total submissions: 5
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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 RCV000216508 SCV000270567 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Asp1180Gly in exon 23 of MYOM1: This variant is not expected to have clinical significance because it has been identified in 0.5% (51/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs188319622).
Labcorp Genetics (formerly Invitae), Labcorp RCV000458238 SCV000561226 benign Hypertrophic cardiomyopathy 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000216508 SCV003857540 uncertain significance not specified 2022-12-23 criteria provided, single submitter clinical testing The p.D1180G variant (also known as c.3539A>G), located in coding exon 22 of the MYOM1 gene, results from an A to G substitution at nucleotide position 3539. The aspartic acid at codon 1180 is replaced by glycine, an amino acid with similar 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227718 SCV003924127 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing MYOM1 NM_003803.3 exon 23 p.Asp1180Gly (c.3539A>G): This variant has not been reported in the literature and is present in 0.5% (137/24170) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/18-3102508-T-C). This variant is present in ClinVar (Variation ID:227701). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV003227718 SCV005214871 likely benign not provided criteria provided, single submitter not provided

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