ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.930C>T (p.Ala310=)

gnomAD frequency: 0.30776  dbSNP: rs1135989
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037127 SCV000060784 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala310Ala in Exon 05 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 37.7% (2650/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1135989)."
GeneDx RCV000037127 SCV000516363 benign not specified 2015-10-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001512198 SCV001719568 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549223 SCV001769334 benign Baraitser-winter syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549224 SCV001769335 benign Autosomal dominant nonsyndromic hearing loss 20 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037127 SCV000150150 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037127 SCV001951726 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037127 SCV001969269 benign not specified no assertion criteria provided clinical testing

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