ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)

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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 RCV002452534 SCV002613993 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-05 criteria provided, single submitter clinical testing The c.365C>G variant (also known as p.S122W), located in coding exon 4 of the LZTR1 gene, results from a C to G substitution at nucleotide position 365. The serine at codon 122 is replaced by tryptophan, an amino acid with highly dissimilar properties. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003471337 SCV004191312 uncertain significance Schwannomatosis 2 2023-07-28 criteria provided, single submitter clinical testing

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