ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.434G>C (p.Arg145Pro)

dbSNP: rs398123952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080612 SCV000330932 pathogenic not provided 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000080612 SCV000570398 pathogenic not provided 2023-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 26911353, 28859693, 32962870, 34297739)
Labcorp Genetics (formerly Invitae), Labcorp RCV001237927 SCV001410718 pathogenic Duchenne muscular dystrophy 2024-03-09 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 145 of the DMD protein (p.Arg145Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with DMD-related muscular dystrophy (PMID: 26911353, 34297739; Invitae; N. Greulich et. al. 2015). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 94622). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DMD protein function. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001237927 SCV002769572 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PM2, PP3, PP5, BP1

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