ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6456dup (p.Leu2153fs) (rs1554108854)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479310 SCV000572151 likely pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing Although the c.6456dupG likely pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon leucine 2153, changing it to an alanine, and creating a premature stop codon at position 3 of the new reading frame, denoted p.Leu2153AlafsX3. This likely pathogenic variant is expected to result in an abnormal, truncated protein product as the last 719 amino acids are replaced with two incorrect amino acids. Other downstream frameshift variants in the DSP gene have been reported in HGMD in association with DSP-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.6456dupG variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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