ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) (rs119103280)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037022 SCV000060678 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Gly384Cys in exon 11 of MYH14: This variant is not expected to have clinical s ignificance, because it has been identified in 1.3% (136/10142) of Ashkenazi Jew ish chromosomes including 1 homozygote by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org/; dbSNP rs119103280). Although this variant has been reported as a de novo variant in one individual with moderate sensorine ural hearing loss (Donaudy 2004), the evidence is not sufficient to establish ca usality.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037022 SCV000331450 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438830 SCV000511768 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000037022 SCV000729165 likely benign not specified 2017-11-15 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000037022 SCV000930197 likely benign not specified 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000438830 SCV001102482 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000438830 SCV001144619 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037022 SCV001157316 benign not specified 2018-12-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000002283 SCV001296271 uncertain significance Deafness, autosomal dominant 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000002283 SCV000022441 pathogenic Deafness, autosomal dominant 4 2004-04-01 no assertion criteria provided literature only

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