ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5899G>A (p.Val1967Met) (rs397516949)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038069 SCV000061735 uncertain significance not specified 2012-06-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1967Met vari ant in DSP has not been previously reported in the literature nor previously bee n identified by our laboratory. Valine (Val) at position 1967 is not conserved i n distantly related mammals and the platypus carries a methionine (Met; this var iant) at this position. In addition, computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the normal function of the protein, though this informat ion is not predictive enough to rule out pathogenicity. Although the lack of con servation and computational data are supportive of a benign role for Val1967Met, additional studies are needed to fully assess its clinical significance.

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