ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln)

gnomAD frequency: 0.00004  dbSNP: rs746431820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659077 SCV000780886 uncertain significance not provided 2018-03-31 criteria provided, single submitter clinical testing
Invitae RCV001237262 SCV001410016 uncertain significance CHARGE association 2019-08-26 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SEMA3E-related conditions. ClinVar contains an entry for this variant (Variation ID: 547019). This variant is present in population databases (rs746431820, ExAC 0.02%). This sequence change replaces histidine with glutamine at codon 339 of the SEMA3E protein (p.His339Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. 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.
Ambry Genetics RCV003258916 SCV003972810 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.1017T>A (p.H339Q) alteration is located in exon 10 (coding exon 10) of the SEMA3E gene. This alteration results from a T to A substitution at nucleotide position 1017, causing the histidine (H) at amino acid position 339 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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