ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.308T>C (p.Val103Ala) (rs876657790)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219672 SCV000271711 uncertain significance not specified 2017-01-27 criteria provided, single submitter clinical testing The p.Val103Ala variant in DSG2 has been identified by our laboratory in one ind ividual with DCM and segregated with disease in one affected relative. Both of t hese individuals also carried a likely pathogenic variant in a different gene su fficient to cause disease. The p.Val103Ala has not been previously reported in t he literature and is absent from large population studies. Valine (Val) at posit ion 103 is not conserved in mammals or evolutionarily distant species and 1 mamm al (big brown bat) carries an alanine (Ala), raising the possibility that this c hange may be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Val103Ala variant is uncertain.
Color Health, Inc RCV000771963 SCV000904917 uncertain significance Cardiomyopathy 2019-04-08 criteria provided, single submitter clinical testing

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