ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1473C>T (p.Ser491=) (rs1561688471)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756044 SCV000883753 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The c.1473C>T variant does not alter the amino acid sequence of the DSP protein; however, computational splice site prediction algorithms predict creation of a cryptic splice donor site. This variant has not been reported in association with c.1473C>T in medical literature or in gene specific variation databases. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP) , and the Exome Aggregation Consortium (ExAC) browser. Altogether, there is not enough evidence to classify the c.1473C>T variant with certainty.

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