ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1049G>C (p.Arg350Pro)

dbSNP: rs57965306
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651542 SCV000773396 pathogenic Desmin-related myofibrillar myopathy 2022-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 350 of the DES protein (p.Arg350Pro). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects DES function (PMID: 15800015, 20448486, 25394388, 27393313). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DES protein function. ClinVar contains an entry for this variant (Variation ID: 16835). This missense change has been observed in individual(s) with DES-related myofibrillar myopathy (PMID: 15800015, 17439987). It has also been observed to segregate with disease in related individuals.
Eurofins Ntd Llc (ga) RCV000056767 SCV000858481 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000056767 SCV001248941 pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000056767 SCV001448105 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000651542 SCV004100749 pathogenic Desmin-related myofibrillar myopathy 2023-09-26 criteria provided, single submitter clinical testing Criteria applied: PS3,PP1_STR,PM2_SUP,PP3
OMIM RCV000018329 SCV000038608 pathogenic Neurogenic scapuloperoneal syndrome, Kaeser type 2007-06-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056767 SCV000087880 not provided not provided no assertion provided not provided

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