Submissions for variant NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)

gnomAD frequency: 0.00462  dbSNP: rs141215006

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194050	SCV000248125	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210686	SCV000262936	uncertain significance	Inborn genetic diseases	2014-03-31	criteria provided, single submitter	clinical testing	Based on data from the NHLBI Exome Sequencing Project (ESP), the G-allele has an overall frequency of approximately 0.42% (45/10754) total alleles studied. The G-allele was observed in 0.58% (41/7016) European American alleles and in 0.11% (4/3738) African American alleles studied and was not observed in the homozygous state out of 5377 individuals studied. Based on data from the 1000 Genomes Project, the G-allele has an overall frequency of approximately 0.32% (7/2188) and the highest frequency was in 1.82% (2/110) 1.82% Puerto Rican chromosomes studied.The R1784 amino acid is highly conserved among available vertebrate species.This alteration is predicted to be probably damaging with a score of 0.961 (sensitivity: 0.62; specificity: 0.92)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 3.05)
PreventionGenetics, part of Exact Sciences	RCV000194050	SCV000309008	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000953038	SCV001099584	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000989748	SCV001140293	likely benign	Hecht syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989748	SCV001273358	likely benign	Hecht syndrome	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000953038	SCV001936014	benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29565416)
CeGaT Center for Human Genetics Tuebingen	RCV000953038	SCV004033531	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH8: PP3, BS2