ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)

gnomAD frequency: 0.00001  dbSNP: rs768606535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228416 SCV001400814 uncertain significance CHARGE syndrome 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 685 of the SEMA3E protein (p.Asp685Asn). This variant is present in population databases (rs768606535, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. ClinVar contains an entry for this variant (Variation ID: 955728). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002497775 SCV002798193 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032631 SCV004946942 uncertain significance not specified 2023-12-12 criteria provided, single submitter clinical testing The c.2053G>A (p.D685N) alteration is located in exon 17 (coding exon 17) of the SEMA3E gene. This alteration results from a G to A substitution at nucleotide position 2053, causing the aspartic acid (D) at amino acid position 685 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918787 SCV004735625 uncertain significance SEMA3E-related disorder 2023-12-30 no assertion criteria provided clinical testing The SEMA3E c.2053G>A variant is predicted to result in the amino acid substitution p.Asp685Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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