Submissions for variant NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)

gnomAD frequency: 0.00021  dbSNP: rs147447269

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182540	SCV000234888	likely benign	not specified	2018-02-15	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.
Invitae	RCV000233878	SCV000285779	benign	Aortic aneurysm, familial thoracic 4	2023-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244088	SCV000319307	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-11-20	criteria provided, single submitter	clinical testing	Insufficient evidence
Illumina Laboratory Services, Illumina	RCV000233878	SCV000395405	uncertain significance	Aortic aneurysm, familial thoracic 4	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics	RCV000617853	SCV000739202	uncertain significance	Cardiovascular phenotype	2018-04-02	criteria provided, single submitter	clinical testing	Insufficient evidence
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680562	SCV000807976	uncertain significance	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000244088	SCV000904588	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001572709	SCV004564640	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing	The MYH11 c.217A>C; p.Lys73Gln variant (rs147447269), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 201095). This variant is found in the general population with an overall allele frequency of 0.0283% (80/282,844 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.688). Due to limited information, the clinical significance of this variant is uncertain at this time.
CeGaT Center for Human Genetics Tuebingen	RCV001572709	SCV004699989	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH11: PP3
PreventionGenetics, part of Exact Sciences	RCV003967451	SCV004776543	likely benign	MYH11-related condition	2020-01-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572709	SCV001797493	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572709	SCV001932097	uncertain significance	not provided		no assertion criteria provided	clinical testing