ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)

gnomAD frequency: 0.00016  dbSNP: rs148716975
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Total submissions: 3
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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 RCV000214775 SCV000270100 likely benign not specified 2015-02-19 criteria provided, single submitter clinical testing p.Asp312Asn in exon 7 of DFNA5: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, more than 10 mammals have an asparagine (Asn) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identif ied in 18/66664 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148716975).
Illumina Laboratory Services, Illumina RCV001163504 SCV001325552 uncertain significance Autosomal dominant nonsyndromic hearing loss 5 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519604 SCV003470625 benign not provided 2023-08-31 criteria provided, single submitter clinical testing

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