ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3467+1G>A

dbSNP: rs727503223
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Total submissions: 1
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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 RCV000151187 SCV000199017 uncertain significance not specified 2013-11-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 3467+1G>A v ariant in MYH14 has not been reported in individuals with hearing loss or in lar ge population studies. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. However, it is not clear if loss of function variants in the MYH14 gene are causative for hearing loss. In summary, this var iant is likely to be pathogenic due to its impact on the protein, though additio nal studies are required to fully establish its clinical significance.

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