ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)

dbSNP: rs372156795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944323 SCV002214714 uncertain significance CHARGE syndrome 2021-06-28 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 720 of the SEMA3E protein (p.Ser720Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs372156795, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002507625 SCV002815481 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042085 SCV004946944 uncertain significance not specified 2024-03-08 criteria provided, single submitter clinical testing The c.2159G>C (p.S720T) alteration is located in exon 17 (coding exon 17) of the SEMA3E gene. This alteration results from a G to C substitution at nucleotide position 2159, causing the serine (S) at amino acid position 720 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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