ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2607+5G>A (rs143862573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663278 SCV000786515 uncertain significance Multiple endocrine neoplasia, type 2a 2018-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000413101 SCV000490771 likely pathogenic not provided 2016-03-22 criteria provided, single submitter clinical testing The c.2607+5G>A variant in the RET gene has been previously reported in an individual with long segment Hirschsprung disease (Auricchio et al., 1999). This variant is predicted to damage or destroy the natural splice donor site of intron 14, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.2607+5G>A 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. Based on review of the data in the context of the 2015 ACMG standards and guidelines for the interpretation of sequence variants (Richards et al., 2015), we now interpret c.2607+5G>A as a likely pathogenic variant, which may be related to abdominal pain and bloody stools. However, the possibility it may be a rare benign variant cannot be excluded. This variant has been seen to be maternally inherited.

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