ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.378T>G (p.Asp126Glu) (rs764053615)

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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 RCV001021148 SCV001182727 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing The p.D126E variant (also known as c.378T>G), located in coding exon 2 of the VHL gene, results from a T to G substitution at nucleotide position 378. The aspartic acid at codon 126 is replaced by glutamic acid, an amino acid with highly similar properties. A similar alteration affecting this same amino acid, p.D126N, has been shown to cause autosomal recessive polycythemia, a condition characterized by increased red blood cell mass and high risk of pulmonary hypertension, peripheral thrombosis and cerebrovascular events, but not Von Hippel-Lindau syndrome (Bond, J et al. Blood. 2011 Mar 31;117(13):3699-701). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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