ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.523dup (p.His175fs) (rs730880389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157774 SCV000207704 uncertain significance not provided 2013-08-06 criteria provided, single submitter clinical testing The c.523dupC variant in the ACTC1 gene has not been reported as a disease-causing mutation or as a benign change to our knowledge. This variant causes a shift in reading frame starting at codon Histidine 175, changing it to a Proline, and creating a premature stop codon at position 15of the new reading frame, denoted p.His175ProfsX15. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Nevertheless, no frameshift or nonsense mutations have been reported in the ACTC1 gene in association with cardiomyopathy.With the clinical and molecular information available at this time, we cannot definitively determine if c.523dupC is a disease-causing mutation or a rare benign variant.
Color RCV001177862 SCV001342144 uncertain significance Cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing

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