ClinVar Miner

Submissions for variant NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)

gnomAD frequency: 0.00510  dbSNP: rs139512218
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454560 SCV000540451 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in individuals with Kallman syndrome and controls was the same (Miraoui 2013).
Labcorp Genetics (formerly Invitae), Labcorp RCV000954651 SCV001101297 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000954651 SCV001820344 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31726455, 23643382)
CeGaT Center for Human Genetics Tuebingen RCV000954651 SCV004157259 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SPRY4: BS2
OMIM RCV000043616 SCV000071634 risk factor Hypogonadotropic hypogonadism 17 with or without anosmia 2013-05-02 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849295 SCV002106771 uncertain significance Amenorrhea 2021-03-08 no assertion criteria provided literature only

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