Submissions for variant NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)

gnomAD frequency: 0.00019  dbSNP: rs142416150

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000381509	SCV000331212	uncertain significance	not provided	2015-08-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306075	SCV000452982	uncertain significance	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360760	SCV000452983	uncertain significance	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085861	SCV000452984	uncertain significance	Myofibrillar myopathy 3	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852990	SCV000995739	likely benign	Heart failure	2018-07-03	criteria provided, single submitter	clinical testing
Invitae	RCV001085861	SCV001091758	benign	Myofibrillar myopathy 3	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000381509	SCV001473860	likely benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000381509	SCV001824477	likely benign	not provided	2019-09-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564623)
Ambry Genetics	RCV002519080	SCV003711465	uncertain significance	Inborn genetic diseases	2021-11-15	criteria provided, single submitter	clinical testing	The c.323A>C (p.N108T) alteration is located in exon 2 (coding exon 1) of the MYOT gene. This alteration results from a A to C substitution at nucleotide position 323, causing the asparagine (N) at amino acid position 108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.