Submissions for variant NM_015404.4(WHRN):c.1365T>C (p.Ser455=)

gnomAD frequency: 0.00294  dbSNP: rs111033459

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038870	SCV000062548	benign	not specified	2014-10-04	criteria provided, single submitter	clinical testing	p.Ser455Ser in exon 6 of DFNB31: This variant is not likely to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. In addition, it has been identified in 0.5% (41/8600) of Eu ropean American chromosomes and 0.15% (7/4406) of African American chromosomes b y the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs111033459) .
Eurofins Ntd Llc (ga)	RCV000723649	SCV000113668	uncertain significance	not provided	2018-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361686	SCV000476770	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.
Illumina Laboratory Services, Illumina	RCV000259971	SCV000476771	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.
GeneDx	RCV000723649	SCV000720812	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723649	SCV001029489	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723649	SCV001746073	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	WHRN: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000038870	SCV001925936	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723649	SCV001967917	likely benign	not provided		no assertion criteria provided	clinical testing