ClinVar Miner

Submissions for variant NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) (rs72478580)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000074480 SCV000108565 pathogenic Multiple fibroadenomas of the breast 2013-11-21 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000074480 SCV001142344 benign Multiple fibroadenomas of the breast 2020-01-06 no assertion criteria provided curation NM_000949.5:c.508A>C (Ile170Leu) was reported as I146L in the literature. Bogorad et al. used multiple functional assays, which unambiguously converge to the evidence that I146L exhibits constitutive activity, highlighting the remarkable effect of this single substitution on the biological properties of the PrlR (PMID: 24195502). This variant has an allele frequency of 0.027 in European (non-Finnish) subpopulation in the gnomAD database, including 71 homozygous occurrences. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, PS3.

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