ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.860C>T (p.Ala287Val) (rs397517910)

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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 RCV000041373 SCV000065066 uncertain significance not specified 2012-02-13 criteria provided, single submitter clinical testing The Ala287Val variant (LMNA) has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, PolyPhen2, SIFT, AlignGVGD) do not provide strong sup port for or against pathogenicity. In the absence of additional information, th e clinical significance of this variant cannot be determined.

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