ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)

gnomAD frequency: 0.00003  dbSNP: rs781381659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707193 SCV000836279 uncertain significance CHARGE association 2023-02-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SEMA3E protein function. ClinVar contains an entry for this variant (Variation ID: 582985). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 120 of the SEMA3E protein (p.Arg120Gln).
Ambry Genetics RCV003258944 SCV003970016 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.359G>A (p.R120Q) alteration is located in exon 4 (coding exon 4) of the SEMA3E gene. This alteration results from a G to A substitution at nucleotide position 359, causing the arginine (R) at amino acid position 120 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003980321 SCV004792240 uncertain significance SEMA3E-related condition 2024-01-29 criteria provided, single submitter clinical testing The SEMA3E c.359G>A variant is predicted to result in the amino acid substitution p.Arg120Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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