ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)

gnomAD frequency: 0.00003  dbSNP: rs565706367
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
Invitae RCV001216656 SCV001388462 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 754 of the DIAPH1 protein (p.Gly754Glu). This variant is present in population databases (rs565706367, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 945909). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001773483 SCV001994440 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561904 SCV003656054 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.2261G>A (p.G754E) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. This alteration results from a G to A substitution at nucleotide position 2261, causing the glycine (G) at amino acid position 754 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.