Submissions for variant NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)

gnomAD frequency: 0.00364  dbSNP: rs79572315

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038872	SCV000062550	benign	not specified	2011-03-31	criteria provided, single submitter	clinical testing	Pro485Leu in exon 7 of DFNB31: This variant is not expected to have clinical sig nificance because it has been identified in 6/193 (3.1%) of Caucasian North Amer ican control chromosomes (rs79572315).
Eurofins Ntd Llc (ga)	RCV000038872	SCV000232267	benign	not specified	2014-11-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000888343	SCV000725674	benign	not provided	2019-05-21	criteria provided, single submitter	clinical testing
Invitae	RCV000888343	SCV001031973	benign	not provided	2024-01-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165873	SCV001328122	uncertain significance	Usher syndrome type 2D	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV001165874	SCV001328123	uncertain significance	Autosomal recessive nonsyndromic hearing loss 31	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000888343	SCV004699372	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	WHRN: BS2
Clinical Genetics, Academic Medical Center	RCV000038872	SCV001918256	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000888343	SCV001970858	likely benign	not provided		no assertion criteria provided	clinical testing