ClinVar Miner

Submissions for variant NM_001927.4(DES):c.66G>A (p.Pro22=)

gnomAD frequency: 0.00001  dbSNP: rs767502653
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065113 SCV001230052 uncertain significance Desmin-related myofibrillar myopathy 2022-01-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 859085). This variant has been observed in individual(s) with clinical features of DES-related conditions (PMID: 21520333). This variant is present in population databases (rs767502653, gnomAD 0.006%). This sequence change affects codon 22 of the DES mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DES protein.
Ambry Genetics RCV002365758 SCV002665933 likely benign Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003906171 SCV004723621 likely benign DES-related condition 2021-01-27 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701283 SCV001926776 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701283 SCV001963809 likely benign not provided no assertion criteria provided clinical testing

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