ClinVar Miner

Submissions for variant NM_021020.5(LZTS1):c.1750G>A (p.Ala584Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002602945 SCV003496433 likely benign not provided 2024-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004935311 SCV005615417 uncertain significance not specified 2024-10-12 criteria provided, single submitter clinical testing The c.1750G>A (p.A584T) alteration is located in exon 3 (coding exon 3) of the LZTS1 gene. This alteration results from a G to A substitution at nucleotide position 1750, causing the alanine (A) at amino acid position 584 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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