Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
RCV000038889 | SCV000202617 | benign | not specified | 2014-01-17 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
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, |
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, |
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. |