ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.219C>T (p.Ile73=) (rs376566924)

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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,Partners HealthCare Personalized Medicine RCV000038321 SCV000061990 likely benign not specified 2009-06-03 criteria provided, single submitter clinical testing
Invitae RCV000648307 SCV000770121 likely benign Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2017-12-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769472 SCV000900867 likely benign Cardiomyopathy 2017-02-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000038321 SCV000916412 benign not specified 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The ACTC1 c.219C>T (p.Ile73Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Though one in silico tool predicts a damaging outcome for this variant, 5/5 splice prediction tools predict no significant impact on normal splicing, as well as ESE finder predicts that this variant doesnt affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 33/277206 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000999 (24/24022). This frequency is about 40 times the estimated maximal expected allele frequency of a pathogenic ACTC1 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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