ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2747A>C (p.Lys916Thr)

dbSNP: rs1554107730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618484 SCV000738154 uncertain significance Cardiovascular phenotype 2017-09-06 criteria provided, single submitter clinical testing The p.K916T variant (also known as c.2747A>C), located in coding exon 19 of the DSP gene, results from an A to C substitution at nucleotide position 2747. The lysine at codon 916 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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