ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4288A>T (p.Ile1430Phe) (rs397516937)

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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 RCV000038039 SCV000061705 uncertain significance not specified 2012-04-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile1430Phe vari ant in DSP has not been reported in the literature but has been identified by ou r laboratory in one infant with LVNC. Isoleucine (Ile) at position 1430 is not c onserved in mammals, and computational analyses (AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. Although this data supports t hat the Ile1430Phe variant may be benign, additional studies are needed to fully assess its clinical significance.

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