ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)

gnomAD frequency: 0.00001  dbSNP: rs151087470
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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 RCV001167230 SCV001329700 uncertain significance Dilated cardiomyopathy 3B 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, 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.
Invitae RCV001247077 SCV001420478 likely benign Duchenne muscular dystrophy 2023-12-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230638 SCV003929348 uncertain significance not specified 2023-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003339522 SCV004058180 uncertain significance Cardiovascular phenotype 2023-08-09 criteria provided, single submitter clinical testing The p.P2962L variant (also known as c.8885C>T), located in coding exon 59 of the DMD gene, results from a C to T substitution at nucleotide position 8885. The proline at codon 2962 is replaced by leucine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0033% (6/180402) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0437% (6/13745) of East Asian alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833724 SCV002080226 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-11 no assertion criteria provided clinical testing

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