ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met)

gnomAD frequency: 0.00001  dbSNP: rs751716334
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315665 SCV001506252 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1713 of the MYO7A protein (p.Thr1713Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1016632). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO7A protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002543676 SCV003702240 uncertain significance Inborn genetic diseases 2021-09-14 criteria provided, single submitter clinical testing The c.5138C>T (p.T1713M) alteration is located in exon 37 (coding exon 36) of the MYO7A gene. This alteration results from a C to T substitution at nucleotide position 5138, causing the threonine (T) at amino acid position 1713 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835562 SCV002088489 uncertain significance Usher syndrome type 1B 2020-01-27 no assertion criteria provided clinical testing

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.