ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) (rs150529554)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757332 SCV000885516 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing The c.355G>A; p.Glu119Lys variant (rs150529554) was previously identified in patients with sensorineural hearing loss, but its pathogenicity could not be ascertained and an accompanying pathogenic GJB2 variant could not be identified (Jaradat 2016, Putcha 2007, Wu 2002). It is reported as likely benign in ClinVar (Variation ID: 188488) and is observed in the general population at an overall frequency of 0.009% (25/275896 alleles) in the Genome Aggregation Database. The glutamate at residue 119 is moderately conserved, but computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Jaradat S et al. Molecular analysis of the GJB2 gene in Iraqi patients with sensorineural non-syndromic hearing loss. J Med J. J Med J 2016;50 (3):145- 155. Putcha G et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007;9(7):413-26. Wu B et al. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002;4(4):279-88.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678880 SCV000805073 uncertain significance Hearing loss 2017-04-18 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336897 SCV000383009 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407574 SCV000383010 likely benign Hystrix-like ichthyosis with deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278504 SCV000383011 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342849 SCV000383012 likely benign Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404731 SCV000383013 likely benign Keratitis-Ichthyosis-Deafness Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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