ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)

gnomAD frequency: 0.00048  dbSNP: rs139330366
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098025 SCV002387763 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454433 SCV002736942 uncertain significance Cardiovascular phenotype 2024-01-11 criteria provided, single submitter clinical testing The p.N79I variant (also known as c.236A>T), located in coding exon 6 of the MFAP5 gene, results from an A to T substitution at nucleotide position 236. The asparagine at codon 79 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323983 SCV004029820 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003750878 SCV004563290 uncertain significance Aortic aneurysm, familial thoracic 9 2023-03-15 criteria provided, single submitter clinical testing The MFAP5 c.236A>T; p.Asn79Ile variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1586100). This variant is found in the non-Finnish European population with an allele frequency of 0.08% (104/129050 alleles, including 1 homozygote) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.228). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences RCV003978628 SCV004787094 likely benign MFAP5-related disorder 2023-01-18 no assertion criteria provided 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).

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.