ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.142T>G (p.Phe48Val)

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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 RCV004560955 SCV005047300 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing The p.F48V variant (also known as c.142T>G), located in coding exon 1 of the LZTR1 gene, results from a T to G substitution at nucleotide position 142. The phenylalanine at codon 48 is replaced by valine, an amino acid with highly 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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