ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.315G>A (p.Leu105=)

dbSNP: rs202094234
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Total submissions: 6
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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 RCV000150141 SCV000197004 likely benign not specified 2014-01-30 criteria provided, single submitter clinical testing Leu105Leu in exon 3 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.7% (2/120) Colombian chromosomes by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs20 2094234).
Labcorp Genetics (formerly Invitae), Labcorp RCV000875270 SCV001017568 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001668299 SCV001883020 benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253245 SCV002524490 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253244 SCV002524491 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668299 SCV005214749 likely benign not provided criteria provided, single submitter not provided

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