ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.1821G>T (p.Ala607=)

dbSNP: rs9959365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781336 SCV000919298 likely benign not specified 2018-07-09 criteria provided, single submitter clinical testing Variant summary: DTNA c.1740G>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.7e-05 in 120892 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1740G>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Another variant c.1740G>A, causing same synonymous change, has been classified as benign by our laboratory. Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768456 SCV004626178 likely benign Left ventricular noncompaction 1 2023-12-17 criteria provided, single submitter clinical testing

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