Submissions for variant NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)

gnomAD frequency: 0.00041  dbSNP: rs139511903

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215074	SCV000271644	uncertain significance	not specified	2015-06-02	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Trp7Arg varia nt in DIABLO has not been previously reported in individuals with hearing loss, but has been identified in 0.16% (43/27134) European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs139511903). Computational prediction tools and conservation analysis suggest that this varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p. Trp7Arg variant is uncertain, its frequency in general population suggests that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963479	SCV001110637	likely benign	not provided	2025-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000963479	SCV001816896	likely benign	not provided	2020-06-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003967588	SCV004779119	likely benign	DIABLO-related disorder	2021-05-25	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).