ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4472A>T (p.Asp1491Val) (rs397516938)

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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 RCV000038044 SCV000061710 uncertain significance not specified 2013-01-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp1491Val vari ant in DSP has not been reported in the literature nor previously identified by our laboratory. This variant has not been identified in large and broad African American and European American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be common in other populatio ns. Aspartic acid (Asp) at position 1491 is not conserved in mammals or evolutio narily distant species, raising the possibility that a change may be tolerated. Additional computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein . Although the lack of conservation at this position supports that the Asp1491Va l variant may be benign, additional studies are needed to fully assess its clini cal significance.

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