ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.899C>A (p.Thr300Asn) (rs397517228)

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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 RCV000038772 SCV000062450 uncertain significance not specified 2012-04-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Thr300Asn v ariant (LDB3) has not been previously reported in the literature or been identif ied by our laboratory. Thr300 is highly conserved across evolutionarily distant species, and computational analyses (PolyPhen2 and SIFT) suggest that the Thr300 Asn variant may impact the normal function of the protein. However, the accuracy of these tools has not been validated and this information is therefore not str ong enough to predict pathogenicity. Additional studies are needed to fully ass ess the clinical significance of this variant.

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