ClinVar Miner

Submissions for variant NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile)

gnomAD frequency: 0.00522  dbSNP: rs142439525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969209 SCV001116708 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
OMIM RCV000043615 SCV000071633 pathogenic Hypogonadotropic hypogonadism 17 with or without anosmia 2013-05-02 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000043615 SCV001142347 uncertain significance Hypogonadotropic hypogonadism 17 with or without anosmia 2020-01-06 no assertion criteria provided curation NM_030964.3:c.910G>A in the SPRY4 gene has an allele frequency of 0.017 in African subpopulation in the gnomAD database. This variant has been reported in an individual with normosmic idiopathic hypogonadotropic hypogonadism (PMID: 23643382). The available evidence is currently insufficient to determine the role of this variant in disease. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP4.

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