ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.453C>A (p.Thr151=)

gnomAD frequency: 0.00904  dbSNP: rs76030344
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252038 SCV000306560 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346884 SCV000355355 likely benign Familial restrictive cardiomyopathy 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000406644 SCV000355356 benign Congenital myopathy with fiber type disproportion 2018-01-12 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.
Illumina Laboratory Services, Illumina RCV001082073 SCV000355357 benign Actin accumulation myopathy 2018-01-12 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.
GeneDx RCV000252038 SCV000511957 benign not specified 2016-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082073 SCV000638366 benign Actin accumulation myopathy 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000548943 SCV001142911 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500878 SCV002805155 likely benign Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy 2021-08-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000548943 SCV005264329 likely benign not provided criteria provided, single submitter not provided

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