ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.864G>A (p.Ala288=)

gnomAD frequency: 0.00076  dbSNP: rs144358787
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401247 SCV000468401 benign Autosomal dominant nonsyndromic hearing loss 5 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606704 SCV000711011 benign not specified 2016-08-23 criteria provided, single submitter clinical testing p.Ala288Ala in Exon 7 of DFNA5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.7% (110/16432) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs144358787).
GeneDx RCV000840000 SCV000981913 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Invitae RCV000840000 SCV002508462 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912541 SCV004729105 benign GSDME-related condition 2019-05-07 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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