ClinVar Miner

Submissions for variant NM_003667.4(LGR5):c.1795A>G (p.Ile599Val)

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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 RCV005362640 SCV006025271 uncertain significance not specified 2024-12-14 criteria provided, single submitter clinical testing The c.1795A>G (p.I599V) alteration is located in exon 18 (coding exon 18) of the LGR5 gene. This alteration results from a A to G substitution at nucleotide position 1795, causing the isoleucine (I) at amino acid position 599 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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