Submissions for variant NM_015404.4(WHRN):c.1455G>A (p.Pro485=)

gnomAD frequency: 0.00055  dbSNP: rs141807746

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000396458	SCV000341810	uncertain significance	not provided	2016-06-07	criteria provided, single submitter	clinical testing
Invitae	RCV000396458	SCV001056652	likely benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168768	SCV001331382	uncertain significance	Usher syndrome type 2D	2017-08-14	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.
Illumina Laboratory Services, Illumina	RCV001168769	SCV001331383	uncertain significance	Autosomal recessive nonsyndromic hearing loss 31	2017-08-14	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195590	SCV001365986	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Pro485Pro in Exon 07 of DFNB31: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (7/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141807746).
GeneDx	RCV000396458	SCV001889577	likely benign	not provided	2021-01-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000396458	SCV001979276	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000396458	SCV001980316	likely benign	not provided		no assertion criteria provided	clinical testing