ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)

dbSNP: rs1429296509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037207 SCV001200608 uncertain significance CHARGE syndrome 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 107 of the SEMA3E protein (p.Met107Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 836153). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SEMA3E protein function with a negative predictive value of 80%. 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 RCV002497360 SCV002789598 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-05-28 criteria provided, single submitter clinical testing

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