Submissions for variant NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile)

gnomAD frequency: 0.01250  dbSNP: rs147436181

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455242	SCV000540312	benign	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
GeneDx	RCV000059788	SCV001897408	benign	not provided	2019-09-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22927827, 29255181, 30183078, 28334861, 23643381, 25077900, 21898659, 27884173, 25839327, 24522099, 24963029)
CeGaT Center for Human Genetics Tuebingen	RCV000059788	SCV002586175	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SEMA3A: BS1, BS2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000032921	SCV003920462	likely benign	Hypogonadotropic hypogonadism 16 with or without anosmia	2022-07-25	criteria provided, single submitter	clinical testing	This variant is present in the Genome Aggregation Database (Highest reported MAF: 2.0% [1382/68016] including 15 total homozygotes; https://gnomad.broadinstitute.org/variant/7-84005396-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:39716). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics	RCV000059788	SCV005272489	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000032921	SCV000056693	risk factor	Hypogonadotropic hypogonadism 16 with or without anosmia	2012-08-01	no assertion criteria provided	literature only
UniProtKB/Swiss-Prot	RCV000059788	SCV000091358	not provided	not provided		no assertion provided	not provided