Submissions for variant NM_005159.5(ACTC1):c.514G>A (p.Ala172Thr) (rs876661340)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000223912	SCV000280037	uncertain significance	not specified	2011-12-28	no assertion criteria provided	clinical testing	Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Based on the data reviewed below we consider this variant to be of uncertain significance. This variant has not been reported in association with cardiomyopathy. In silico analysis with PolyPhen-2 predicts the variant to be benign. This is a non-conservative amino acid substitution at a highly conserved position. No other variants have been reported in association with disease at this codon, though they have been reported at nearby codons (p.Tyr168Cys, p.Pro166Ala). In total the variant has been seen in 1 of 5570 laboratory controls and publicly available population datasets. This variant was observed in 1 out of 270 control individuals analyzed at GeneDx. There is no variation at codon 172 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 24 July 2013). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 24 July 2013).