ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.467A>G (p.Lys156Arg)

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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 RCV004561168 SCV005047968 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-05-30 criteria provided, single submitter clinical testing The c.467A>G variant (also known as p.K156R), located in coding exon 5 of the LZTR1 gene, results from an A to G substitution at nucleotide position 467. The lysine at codon 156 is replaced by arginine, an amino acid with highly similar properties. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038713 SCV005656726 uncertain significance Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2024-06-06 criteria provided, single submitter clinical testing

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