ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1368C>T (p.Phe456=)

gnomAD frequency: 0.00004  dbSNP: rs766216871
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869571 SCV001011009 likely benign Hypertrophic cardiomyopathy 2024-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111275 SCV001268821 uncertain significance Hypertrophic cardiomyopathy 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV003320222 SCV001268822 uncertain significance Myosin storage myopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001113280 SCV001271042 benign MYH7-related skeletal myopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health RCV001181795 SCV001347021 likely benign Cardiomyopathy 2018-12-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001181795 SCV002042250 likely benign Cardiomyopathy 2020-02-19 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823748 SCV002073465 likely benign not specified 2022-01-19 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (701138) NM_000257.4 (MYH7): c.1368C>T (p.Phe456=) and has occurred in GnomAD with a total MAF of 0.0045% and highest MAF of 0.0580% in the East Asian population. This position is conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has previously been reported in a patient affected with hypertrophic cardiomyopathy (PMID: 27841901). Considering the above evidence, this variant has been classified as Likely Benign.
All of Us Research Program, National Institutes of Health RCV001181795 SCV005431151 likely benign Cardiomyopathy 2024-03-24 criteria provided, single submitter clinical testing

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