ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) (rs149773722)

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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 RCV000222527 SCV000270171 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Thr1806Ser in exon 24 of DSP: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 4 mammals (dolphin, shrew, opossum, wallaby) and >15 birds, reptiles, and f ish have a serine (Ser) at this position despite high nearby amino acid conserva tion. It has also been identified in 2/10348 African chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs149773722).

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