ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)

gnomAD frequency: 0.00001  dbSNP: rs1327334624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794529 SCV000933943 uncertain significance CHARGE association 2023-04-22 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: 641315). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 477 of the SEMA3E protein (p.Val477Ile).
Ambry Genetics RCV003166118 SCV003902082 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.1429G>A (p.V477I) alteration is located in exon 12 (coding exon 12) of the SEMA3E gene. This alteration results from a G to A substitution at nucleotide position 1429, causing the valine (V) at amino acid position 477 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003411747 SCV004108861 uncertain significance SEMA3E-related condition 2023-10-04 criteria provided, single submitter clinical testing The SEMA3E c.1429G>A variant is predicted to result in the amino acid substitution p.Val477Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0064% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-83025983-C-T). 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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