ClinVar Miner

Submissions for variant NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) (rs1557303381)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000582079 SCV000751527 uncertain significance Duchenne muscular dystrophy 2020-08-23 criteria provided, single submitter clinical testing This sequence change replaces lysine with serine at codon 1775 of the DMD protein (p.Lys1775Ser). The lysine residue is highly conserved and there is a large physicochemical difference between lysine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DMD-related disease. ClinVar contains an entry for this variant (Variation ID: 492824). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582079 SCV000692210 pathogenic Duchenne muscular dystrophy 2015-04-15 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583809 SCV000692211 pathogenic Becker muscular dystrophy 2015-04-15 no assertion criteria provided clinical testing

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