ClinVar Miner

Submissions for variant NM_003667.4(LGR5):c.2438C>A (p.Ala813Glu)

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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 RCV005347605 SCV006025272 uncertain significance not specified 2025-01-09 criteria provided, single submitter clinical testing The c.2438C>A (p.A813E) alteration is located in exon 18 (coding exon 18) of the LGR5 gene. This alteration results from a C to A substitution at nucleotide position 2438, causing the alanine (A) at amino acid position 813 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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