ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2035C>T (p.Pro679Ser)

dbSNP: rs1434258545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238076 SCV002009536 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558645 SCV005047471 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-08 criteria provided, single submitter clinical testing The p.P679S variant (also known as c.2035C>T), located in coding exon 17 of the LZTR1 gene, results from a C to T substitution at nucleotide position 2035. The proline at codon 679 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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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