ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) (rs397516941)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770249 SCV000901680 uncertain significance Cardiomyopathy 2016-05-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038051 SCV000061717 uncertain significance not specified 2012-08-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr1524Ile vari ant in DSP has not been reported in the literature nor previously identified by our laboratory. Threonine (Thr) at position 20734 is not conserved in mammals (m acaque and rabbit carry different variants), which raises the possibility that v ariation at this position may be tolerated. Computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong sup port for or against an impact to the protein. While the lack of conservation sug gests that this variant is more likely benign, it is insufficient to confidently rule out a disease-causing role. Additional information is needed to fully asse ss its clinical significance.

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