ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) (rs56204273)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038889 SCV000062567 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Thr77Ser in exon 1 of DFNB31: This variant has been reported in one individual w ith Usher syndrome (Aller 2010). However, it is not expected to have clinical si gnificance because the variant has been reported in 0.8% (33/4074) control chrom osomes from a broad, though clinically and racially unspecified population (rs56 204273), and in 1% (77/7014) European and 0.29% (11/3736) African American contr ol chromosomes by the NHBLI Exome Sequencing project (http://evs.gs.washington.e du/EVS). The variant has also been reported in 3/128 (2.3%) Caucasian probands t ested by our laboratory. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein primarily b ased upon a lack of conservation across species including mammals. Of note, frui tfly has a serine at this position despite high nearby amino acid conservation.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038889 SCV000202617 benign not specified 2014-01-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514950 SCV000610911 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000514950 SCV001113505 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167578 SCV001330096 uncertain significance Deafness, autosomal recessive 31 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001167579 SCV001330097 benign Usher syndrome, type 2D 2017-04-27 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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