ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.1183+9A>T

gnomAD frequency: 0.00014  dbSNP: rs397516910
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037969 SCV000061635 benign not specified 2015-06-29 criteria provided, single submitter clinical testing 1183+9A>T in intron 8 of DFNA5: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (214/16490) of South Asian chr omosomes by the Exome Aggregation Consortium and it is not located within the sp lice consensus sequence (ExAC, http://exac.broadinstitute.org; dbSNP rs397516910 ).
Illumina Laboratory Services, Illumina RCV000287752 SCV000468396 likely benign Autosomal dominant nonsyndromic hearing loss 5 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000037969 SCV000718099 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000897998 SCV001042180 benign not provided 2023-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003924922 SCV004746426 likely benign GSDME-related condition 2019-11-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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