ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) (rs572234918)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000350157 SCV000329179 uncertain significance not specified 2017-09-22 criteria provided, single submitter clinical testing Although the T558M variant of uncertain significance in the CACNA1C gene has not been published as pathogenic or been reported as benign to our knowledge, it has been identified in conjunction with additional cardiogenetic variants in other individuals referred for LQTS genetic testing at GeneDx; however, thus far, segregation data is limited or absent due to the lack of clinical information provided and/or insufficient participation by informative family members. The T558M variant is observed in 15/15566 (0.1%) alleles from individuals of East Asian background in the Exome Aggregation Consortium dataset (Lek et al., 2016), indicating this may be a rare benign variant in this population. The T558M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, and this substitution occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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