ClinVar Miner

Submissions for variant NM_003667.4(LGR5):c.1395T>A (p.Phe465Leu)

dbSNP: rs776281947
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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 RCV004280623 SCV003905833 uncertain significance not specified 2023-03-01 criteria provided, single submitter clinical testing The c.1395T>A (p.F465L) alteration is located in exon 15 (coding exon 15) of the LGR5 gene. This alteration results from a T to A substitution at nucleotide position 1395, causing the phenylalanine (F) at amino acid position 465 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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