ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2600G>A (p.Arg867His)

gnomAD frequency: 0.00008  dbSNP: rs547836952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321102 SCV000414405 benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602223 SCV000731764 benign not specified 2017-07-11 criteria provided, single submitter clinical testing p.Arg867His in exon 22 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (177/23764) of South Asian ch romosomes including 2 homozygotes by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs547836952).
Invitae RCV000936399 SCV001082164 benign not provided 2023-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000936399 SCV001883211 benign not provided 2019-05-09 criteria provided, single submitter clinical testing

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