ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) (rs730880410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157808 SCV000207738 likely pathogenic not provided 2012-01-23 criteria provided, single submitter clinical testing This missense change is denoted p.Ile329Thr (aka I329T) at the protein level, and c.986 T>C at the cDNA level. The Ile329Thr variant in the ACTC1 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Ile329Thr results in a non-conservative amino acid substitution of a non-polar Isoleucine with a neutral, polar Threonine at a position that is highly conserved throughout evolution. In silico analysis predicts Ile329Thr is probably damaging to the protein structure/function. A mutation in a nearby codon (Ala333Pro) has been reported in association with cardiomyopathy (Olson et al. 2000), supporting the functional importance of this region of the protein. Furthermore, Ile329Thr was not detected in up to 400 control alleles from individuals of Caucasian and African American ancestry tested at GeneDx, indicating it is not a common benign variant in these populations. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of the Ile329Thr variant in the ACTC1 gene, though evidence suggests it may be disease-causing. The variant is found in DCM panel(s).

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