ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) (rs762930286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780214 SCV000917297 uncertain significance not specified 2017-09-01 criteria provided, single submitter clinical testing Variant summary: The DSP c.4118C>T (p.Thr1373Ile) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 1/120766 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic DSP variant (0.00001). The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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