ClinVar Miner

Submissions for variant NM_000145.3(FSHR):c.566C>T (p.Ala189Val) (rs121909658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017630 SCV000037907 pathogenic Ovarian dysgenesis 1 2002-01-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000017630 SCV001142319 pathogenic Ovarian dysgenesis 1 2020-01-06 no assertion criteria provided curation NM_000145.3:c.566C>T in the FSHR gene has an allele frequency of 0.007 in European (Finnish) subpopulation in the gnomAD database. The p.Ala189Val (NM_000145.3:c.566C>T) variant in FSHR has been reported as founder mutation in Finnish population(PMID: 11754099), and segregated in over 10 affected siblings in 6 families (PMID: 7553856). Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction, but apparently normal ligand-binding affinity of the mutated receptor (PMID: 7553856). Pathogenic computational verdict because pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationTaster, REVEL and SIFT. Taken together, we interprete this variant as Pathogenic/Likely pathogenic variant. ACMG/AMP Criteria applied: PS4, PP3, PS3, PP1_Strong.

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