ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)

gnomAD frequency: 0.00599  dbSNP: rs121908970
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038978 SCV000062656 benign not specified 2012-12-19 criteria provided, single submitter clinical testing Thr2205Ile variant in exon 31 of MYO15A: This variant is not expected to have cl inical significance because it has been identified in has been reported in 0.4% (33/8348) of European American chromosomes chromosomes from a broad population b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP r s121908970). It has been reported in the hemizygous state in an individual with Smith-Lemli-Opitz sydnrome (Liburd 2001) and homozygous in one individual with hearing loss who also carries a homozygous nonsense variant in MYO15A (Nal 2007) ; however, these reports are likely due to the frequency of this variant and not a reflection of its role in hearing loss.
Eurofins Ntd Llc (ga) RCV000038978 SCV000340324 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000835662 SCV000977464 benign not provided 2019-04-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 11735029, 17546645, 12545186, 23208854, 26308726, 27375115, 30579064)
Invitae RCV000835662 SCV001023231 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122993 SCV001281785 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000835662 SCV001334834 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003993739 SCV004812531 likely benign Nonsyndromic genetic hearing loss 2024-01-05 criteria provided, single submitter clinical testing Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as Likely benign. Following criteria are met: BS1 - BS1: Allele frequency is greater than expected for disorder PP3 - PP3: Computational evidence support a deleterious effect on the gene or gene product (REVEL >=0.644 & <0.932 OR SpliceAI >0.50)
OMIM RCV000007371 SCV000027570 pathogenic Deafness, with smith-magenis syndrome 2001-11-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.