Submissions for variant NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)

gnomAD frequency: 0.00002  dbSNP: rs563865467

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000868555	SCV000395377	uncertain significance	Aortic aneurysm, familial thoracic 4	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, 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.
Color Diagnostics, LLC DBA Color Health	RCV000404122	SCV000913644	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-11	criteria provided, single submitter	clinical testing
Invitae	RCV000868555	SCV001009896	likely benign	Aortic aneurysm, familial thoracic 4	2023-11-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001797705	SCV002041611	likely benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001572649	SCV002056032	uncertain significance	not provided	2022-01-04	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID#318169)
Ambry Genetics	RCV000404122	SCV002721135	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2019-11-01	criteria provided, single submitter	clinical testing	The p.G627S variant (also known as c.1879G>A), located in coding exon 15 of the MYH11 gene, results from a G to A substitution at nucleotide position 1879. The glycine at codon 627 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572649	SCV001797342	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572649	SCV001963711	uncertain significance	not provided		no assertion criteria provided	clinical testing