ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)

gnomAD frequency: 0.00043  dbSNP: rs138980048
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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 RCV000155076 SCV000204760 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Pro374Pro in exon 08 of DFNA5: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 53/66666 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs138980048).
Eurofins Ntd Llc (ga) RCV000724416 SCV000232657 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303145 SCV000468399 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000724416 SCV000986297 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724416 SCV001078973 benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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