ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.364G>A (p.Ala122Thr) (rs1064793291)

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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 RCV000564632 SCV000664531 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing The p.A122T variant (also known as c.364G>A), located in coding exon 2 of the VHL gene, results from a G to A substitution at nucleotide position 364. The alanine at codon 122 is replaced by threonine, an amino acid with similar properties. 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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