ClinVar Miner

Submissions for variant NM_001142556.2(HMMR):c.452T>C (p.Leu151Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154790 SCV003843724 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246189 SCV004883958 uncertain significance not specified 2024-01-16 criteria provided, single submitter clinical testing The c.452T>C (p.L151P) alteration is located in exon 5 (coding exon 5) of the HMMR gene. This alteration results from a T to C substitution at nucleotide position 452, causing the leucine (L) at amino acid position 151 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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