ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7575C>T (p.Gly2525=) (rs780156504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620037 SCV000736045 uncertain significance Cardiovascular phenotype 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000181389 SCV000233691 uncertain significance not provided 2014-09-18 criteria provided, single submitter clinical testing p.Gly2525Gly (GGC>GGT): c.7575 C>T in exon 24 of the DSP gene (NM_004415.2). The c.7575 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. While this variant results in a synonymous amino acid substitution (G2525G), in silico splice prediction programs predict that c.7575 C>T leads to the creation of a cryptic splice donor site. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the DSP gene have been reported in association with cardiomyopathy. Additionally, the c.7575 C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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